ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor; Paragangliomas 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 593
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_003001.5(SDHC):c.78-19C>T rs144770080 0.00023
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_003001.5(SDHC):c.342C>T (p.His114=) rs143730978 0.00019
NM_003001.5(SDHC):c.405+13G>A rs369274171 0.00008
NM_003001.5(SDHC):c.98C>T (p.Thr33Met) rs148566767 0.00007
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) rs772450693 0.00005
NM_003001.5(SDHC):c.450G>A (p.Gln150=) rs749159544 0.00005
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp) rs978019587 0.00004
NM_003001.5(SDHC):c.198G>A (p.Ala66=) rs763628960 0.00004
NM_003001.5(SDHC):c.20+8C>T rs773661299 0.00004
NM_003001.5(SDHC):c.242-15T>C rs961762320 0.00004
NM_003001.5(SDHC):c.282G>A (p.Gly94=) rs536197277 0.00004
NM_003001.5(SDHC):c.444A>C (p.Leu148=) rs377230417 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu) rs1363555121 0.00003
NM_003001.5(SDHC):c.241+7A>G rs878854586 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.461T>C (p.Val154Ala) rs1378160712 0.00003
NM_003001.5(SDHC):c.99G>A (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.99G>T (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.197C>T (p.Ala66Val) rs760572684 0.00002
NM_003001.5(SDHC):c.264G>A (p.Ser88=) rs1277488324 0.00002
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala) rs371462564 0.00002
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys) rs759914119 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003001.5(SDHC):c.489T>C (p.Ser163=) rs559747670 0.00002
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu) rs746315913 0.00001
NM_003001.5(SDHC):c.114G>C (p.Met38Ile) rs868556406 0.00001
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala) rs1060501388 0.00001
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00001
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser) rs1277411736 0.00001
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe) rs771746264 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.20+12G>C rs1014189365 0.00001
NM_003001.5(SDHC):c.20+12_20+13insTA rs1403146281 0.00001
NM_003001.5(SDHC):c.20+20G>T rs763464678 0.00001
NM_003001.5(SDHC):c.20+3G>A rs377566366 0.00001
NM_003001.5(SDHC):c.205A>G (p.Ile69Val) rs753561812 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003001.5(SDHC):c.215G>A (p.Arg72His) rs778582853 0.00001
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile) rs1332910409 0.00001
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr) rs149375851 0.00001
NM_003001.5(SDHC):c.23A>G (p.His8Arg) rs776123707 0.00001
NM_003001.5(SDHC):c.242-17C>T rs1672283295 0.00001
NM_003001.5(SDHC):c.242G>T (p.Gly81Val) rs781756162 0.00001
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys) rs1227520085 0.00001
NM_003001.5(SDHC):c.259A>C (p.Met87Leu) rs756382502 0.00001
NM_003001.5(SDHC):c.25G>A (p.Val9Ile) rs774768866 0.00001
NM_003001.5(SDHC):c.261G>T (p.Met87Ile) rs1558182772 0.00001
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu) rs778212096 0.00001
NM_003001.5(SDHC):c.268C>G (p.Leu90Val) rs771138203 0.00001
NM_003001.5(SDHC):c.285C>G (p.Asn95Lys) rs1347081665 0.00001
NM_003001.5(SDHC):c.295T>C (p.Tyr99His) rs760678574 0.00001
NM_003001.5(SDHC):c.309G>A (p.Val103=) rs768273090 0.00001
NM_003001.5(SDHC):c.312G>A (p.Lys104=) rs1395923291 0.00001
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala) rs1571890248 0.00001
NM_003001.5(SDHC):c.334C>G (p.Leu112Val) rs1329297940 0.00001
NM_003001.5(SDHC):c.339C>T (p.Ile113=) rs1047677628 0.00001
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe) rs1161002093 0.00001
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe) rs1571890420 0.00001
NM_003001.5(SDHC):c.372C>T (p.Leu124=) rs766007157 0.00001
NM_003001.5(SDHC):c.374T>G (p.Met125Arg) rs1060501387 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln) rs386833414 0.00001
NM_003001.5(SDHC):c.405+12C>T rs575479448 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe) rs760986608 0.00001
NM_003001.5(SDHC):c.420A>G (p.Gly140=) rs794727791 0.00001
NM_003001.5(SDHC):c.42C>T (p.Leu14=) rs1331533952 0.00001
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr) rs876659889 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile) rs773923942 0.00001
NM_003001.5(SDHC):c.47C>T (p.Ala16Val) rs1558164567 0.00001
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu) rs200761743 0.00001
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly) rs781337432 0.00001
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) rs1473438869 0.00001
NM_003001.5(SDHC):c.77+3A>G rs750363498 0.00001
NM_003001.5(SDHC):c.78-18G>A rs780106501 0.00001
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr) rs748243732 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala) rs878854588 0.00001
NM_003001.5(SDHC):c.8C>T (p.Ala3Val) rs142139022 0.00001
NM_003001.5(SDHC):c.9G>A (p.Ala3=) rs749265569 0.00001
NC_000001.10:g.(?_130980840)_(248900000_?)dup
NC_000001.10:g.(?_160786670)_(161332233_?)dup
NC_000001.10:g.(?_161284158)_(161284225_?)del
NC_000001.10:g.(?_161284158)_(161284225_?)dup
NC_000001.10:g.(?_161284186)_(161332233_?)dup
NC_000001.10:g.(?_161284190)_(161332229_?)dup
NC_000001.10:g.(?_161293394)_(161293470_?)del
NC_000001.10:g.(?_161293394)_(161332233_?)dup
NC_000001.10:g.(?_161293398)_(161332229_?)dup
NC_000001.10:g.(?_161298176)_(161298297_?)del
NC_000001.10:g.(?_161298176)_(161332308_?)dup
NC_000001.10:g.(?_161310374)_(161310455_?)del
NC_000001.10:g.(?_161310374)_(161332233_?)dup
NC_000001.10:g.(?_161310374)_(161332308_?)del
NC_000001.10:g.(?_161310378)_(161332229_?)dup
NC_000001.10:g.(?_161326457)_(161326640_?)dup
NC_000001.10:g.(?_161326457)_(161332308_?)del
NC_000001.10:g.(?_161326461)_(161332229_?)dup
NC_000001.10:g.(?_161332109)_(161332308_?)del
NC_000001.10:g.(?_161332109)_(161332308_?)dup
NC_000001.11:g.(?_160816880)_(161362518_?)dup
NC_000001.11:g.(?_161314368)_(161328507_?)dup
NC_000001.11:g.(?_161314368)_(161362518_?)del
NC_000001.11:g.(?_161314368)_(161362518_?)dup
NC_000001.11:g.(?_161314396)_(161340665_?)dup
NC_000001.11:g.(?_161314400)_(161362439_?)del
NC_000001.11:g.(?_161323604)_(161328507_?)del
NC_000001.11:g.(?_161323604)_(161362518_?)dup
NC_000001.11:g.(?_161323614)_(161323670_?)del
NC_000001.11:g.(?_161340584)_(161340665_?)dup
NC_000001.11:g.(?_161340584)_(161356850_?)del
NC_000001.11:g.(?_161340584)_(161362518_?)dup
NC_000001.11:g.(?_161356667)_(161356850_?)del
NC_000001.11:g.(?_161356667)_(161362443_?)del
NC_000001.11:g.(?_161356667)_(161362518_?)dup
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003001.3(SDHC):c.406-?_*2318+?del
NM_003001.5(SDHC):c.102C>T (p.Ala34=) rs1571851493
NM_003001.5(SDHC):c.104A>C (p.Lys35Thr) rs1342764291
NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)
NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)
NM_003001.5(SDHC):c.108A>G (p.Glu36=) rs2102307691
NM_003001.5(SDHC):c.10C>G (p.Leu4Val) rs770796603
NM_003001.5(SDHC):c.10C>T (p.Leu4=)
NM_003001.5(SDHC):c.110A>G (p.Glu37Gly)
NM_003001.5(SDHC):c.110A>T (p.Glu37Val) rs1671147192
NM_003001.5(SDHC):c.113T>C (p.Met38Thr) rs1671147353
NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)
NM_003001.5(SDHC):c.118C>G (p.Arg40Gly) rs978019587
NM_003001.5(SDHC):c.11T>A (p.Leu4Gln)
NM_003001.5(SDHC):c.11T>G (p.Leu4Arg) rs774299337
NM_003001.5(SDHC):c.120G>C (p.Arg40=) rs36097930
NM_003001.5(SDHC):c.121T>C (p.Phe41Leu) rs2102307780
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser) rs1671152402
NM_003001.5(SDHC):c.124del (p.Trp42fs) rs2102307803
NM_003001.5(SDHC):c.127A>C (p.Asn43His) rs1553262439
NM_003001.5(SDHC):c.12G>A (p.Leu4=) rs745443094
NM_003001.5(SDHC):c.12G>T (p.Leu4=) rs745443094
NM_003001.5(SDHC):c.130A>G (p.Lys44Glu) rs2102307825
NM_003001.5(SDHC):c.132G>A (p.Lys44=) rs2102307834
NM_003001.5(SDHC):c.133A>G (p.Asn45Asp)
NM_003001.5(SDHC):c.135T>C (p.Asn45=) rs2102307847
NM_003001.5(SDHC):c.136A>G (p.Ile46Val) rs1558167321
NM_003001.5(SDHC):c.137T>C (p.Ile46Thr)
NM_003001.5(SDHC):c.139G>A (p.Gly47Ser)
NM_003001.5(SDHC):c.13T>A (p.Leu5Met) rs894925936
NM_003001.5(SDHC):c.140G>C (p.Gly47Ala) rs1571851599
NM_003001.5(SDHC):c.143C>T (p.Ser48Leu) rs1362354860
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
NM_003001.5(SDHC):c.146A>G (p.Asn49Ser) rs1571851610
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile) rs1571851610
NM_003001.5(SDHC):c.149G>A (p.Arg50His) rs769177037
NM_003001.5(SDHC):c.149G>T (p.Arg50Leu) rs769177037
NM_003001.5(SDHC):c.152C>G (p.Pro51Arg) rs1428542772
NM_003001.5(SDHC):c.154C>G (p.Leu52Val)
NM_003001.5(SDHC):c.154C>T (p.Leu52=)
NM_003001.5(SDHC):c.156G>A (p.Leu52=) rs987490127
NM_003001.5(SDHC):c.156G>C (p.Leu52=) rs987490127
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
NM_003001.5(SDHC):c.162C>A (p.Pro54=) rs374450282
NM_003001.5(SDHC):c.163C>G (p.His55Asp) rs1671155800
NM_003001.5(SDHC):c.164A>G (p.His55Arg) rs878854585
NM_003001.5(SDHC):c.165C>T (p.His55=) rs786202080
NM_003001.5(SDHC):c.166A>G (p.Ile56Val) rs1363555121
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
NM_003001.5(SDHC):c.16C>G (p.Leu6Val) rs1325823872
NM_003001.5(SDHC):c.171T>A (p.Thr57=)
NM_003001.5(SDHC):c.171_179+15del rs1671156558
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr) rs999134407
NM_003001.5(SDHC):c.173_175dup (p.Ile58_Tyr59insPhe) rs1671156871
NM_003001.5(SDHC):c.174C>A (p.Ile58=)
NM_003001.5(SDHC):c.175T>G (p.Tyr59Asp)
NM_003001.5(SDHC):c.175del (p.Tyr59fs) rs1671157149
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
NM_003001.5(SDHC):c.178A>G (p.Ser60Gly) rs1571851728
NM_003001.5(SDHC):c.179+10_179+19del rs2102308128
NM_003001.5(SDHC):c.179+10del
NM_003001.5(SDHC):c.179+12T>C
NM_003001.5(SDHC):c.179+17G>C rs2102308146
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179+1G>T rs1057517818
NM_003001.5(SDHC):c.179+20C>A rs2102308154
NM_003001.5(SDHC):c.179+20C>G
NM_003001.5(SDHC):c.179+2T>A
NM_003001.5(SDHC):c.179+3405A>G
NM_003001.5(SDHC):c.179+3A>C rs1571851753
NM_003001.5(SDHC):c.179+3A>G
NM_003001.5(SDHC):c.179+4A>G
NM_003001.5(SDHC):c.179+5G>C rs1671157979
NM_003001.5(SDHC):c.179+8A>C rs2102308122
NM_003001.5(SDHC):c.179+9G>A rs1558167376
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn) rs1179839529
NM_003001.5(SDHC):c.17T>C (p.Leu6Pro) rs1211574644
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter) rs1553260596
NM_003001.5(SDHC):c.180-10T>C rs2102335974
NM_003001.5(SDHC):c.180-10T>G
NM_003001.5(SDHC):c.180-11T>G rs201473466
NM_003001.5(SDHC):c.180-12G>A
NM_003001.5(SDHC):c.180-13T>C
NM_003001.5(SDHC):c.180-15T>A rs2102335958
NM_003001.5(SDHC):c.180-16G>A
NM_003001.5(SDHC):c.180-17T>C
NM_003001.5(SDHC):c.180-19T>C
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.180-3C>T rs1328389180
NM_003001.5(SDHC):c.180-4A>G
NM_003001.5(SDHC):c.180-9T>C rs2102335976
NM_003001.5(SDHC):c.180T>C (p.Ser60=) rs752482067
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys) rs1571869120
NM_003001.5(SDHC):c.183G>T (p.Trp61Cys)
NM_003001.5(SDHC):c.183del (p.Trp61fs) rs1671684409
NM_003001.5(SDHC):c.185C>G (p.Ser62Cys) rs1558174466
NM_003001.5(SDHC):c.187C>T (p.Leu63Phe) rs2102336071
NM_003001.5(SDHC):c.18G>C (p.Leu6=) rs1571828901
NM_003001.5(SDHC):c.190C>T (p.Pro64Ser) rs1571869136
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu) rs876658398
NM_003001.5(SDHC):c.193A>G (p.Met65Val) rs1060501392
NM_003001.5(SDHC):c.193A>T (p.Met65Leu) rs1060501392
NM_003001.5(SDHC):c.194T>A (p.Met65Lys) rs2102336108
NM_003001.5(SDHC):c.196G>A (p.Ala66Thr) rs1162090559
NM_003001.5(SDHC):c.197C>A (p.Ala66Glu) rs760572684
NM_003001.5(SDHC):c.197C>G (p.Ala66Gly) rs760572684
NM_003001.5(SDHC):c.19A>C (p.Arg7=) rs1670521233
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
NM_003001.5(SDHC):c.1A>T (p.Met1Leu) rs755235380
NM_003001.5(SDHC):c.20+10G>A rs1060504224
NM_003001.5(SDHC):c.20+10_20+11insCG rs2102271943
NM_003001.5(SDHC):c.20+11_20+12insTT
NM_003001.5(SDHC):c.20+13G>A
NM_003001.5(SDHC):c.20+14G>A
NM_003001.5(SDHC):c.20+14G>T rs2102272018
NM_003001.5(SDHC):c.20+15A>C
NM_003001.5(SDHC):c.20+16C>A rs2102272025
NM_003001.5(SDHC):c.20+17T>A rs2102272030
NM_003001.5(SDHC):c.20+18G>A rs2102272035
NM_003001.5(SDHC):c.20+1G>A
NM_003001.5(SDHC):c.20+1G>T rs1249046874
NM_003001.5(SDHC):c.20+3G>C rs377566366
NM_003001.5(SDHC):c.20+4066C>G
NM_003001.5(SDHC):c.20+4A>G
NM_003001.5(SDHC):c.20+4del rs2102271885
NM_003001.5(SDHC):c.20+5C>T rs760206414
NM_003001.5(SDHC):c.20+6T>A
NM_003001.5(SDHC):c.20+6T>G rs1013252106
NM_003001.5(SDHC):c.20+7T>G rs1553260599
NM_003001.5(SDHC):c.20+8C>A rs773661299
NM_003001.5(SDHC):c.20+98C>T
NM_003001.5(SDHC):c.20+9A>C rs1271741954
NM_003001.5(SDHC):c.20+9A>G
NM_003001.5(SDHC):c.200T>A (p.Met67Lys) rs1287584713
NM_003001.5(SDHC):c.200T>C (p.Met67Thr) rs1287584713
NM_003001.5(SDHC):c.201G>A (p.Met67Ile)
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003001.5(SDHC):c.203C>T (p.Ser68Phe)
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys) rs2102271857
NM_003001.5(SDHC):c.21-10T>C rs771805280
NM_003001.5(SDHC):c.21-1G>A
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.21-3C>G rs1670921815
NM_003001.5(SDHC):c.21-3C>T rs1670921815
NM_003001.5(SDHC):c.21-4G>A
NM_003001.5(SDHC):c.21-5T>G
NM_003001.5(SDHC):c.21-6T>C rs779721144
NM_003001.5(SDHC):c.21-7C>T
NM_003001.5(SDHC):c.21-8T>C rs1571843525
NM_003001.5(SDHC):c.21-9A>G rs2102295295
NM_003001.5(SDHC):c.21-9A>T rs2102295295
NM_003001.5(SDHC):c.210C>T (p.Cys70=) rs2102336228
NM_003001.5(SDHC):c.211C>T (p.His71Tyr)
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
NM_003001.5(SDHC):c.214del (p.Arg72fs) rs2102336244
NM_003001.5(SDHC):c.215del (p.Arg72fs) rs1553264218
NM_003001.5(SDHC):c.219C>T (p.Gly73=) rs752049668
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala) rs1060501391
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
NM_003001.5(SDHC):c.222T>C (p.Thr74=)
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.226A>G (p.Ile76Val) rs1060501389
NM_003001.5(SDHC):c.22C>A (p.His8Asn) rs746666691
NM_003001.5(SDHC):c.22C>T (p.His8Tyr) rs746666691
NM_003001.5(SDHC):c.230C>A (p.Ala77Asp) rs1060501393
NM_003001.5(SDHC):c.232T>C (p.Leu78=) rs1553264225
NM_003001.5(SDHC):c.232T>G (p.Leu78Val) rs1553264225
NM_003001.5(SDHC):c.233dup (p.Leu78fs) rs1571869304
NM_003001.5(SDHC):c.237T>C (p.Ser79=)
NM_003001.5(SDHC):c.237T>G (p.Ser79Arg)
NM_003001.5(SDHC):c.240A>G (p.Ala80=) rs1671687938
NM_003001.5(SDHC):c.241+12T>C rs2102336458
NM_003001.5(SDHC):c.241+13_241+14del rs2102336452
NM_003001.5(SDHC):c.241+14T>C rs2102336463
NM_003001.5(SDHC):c.241+15T>C
NM_003001.5(SDHC):c.241+17T>C
NM_003001.5(SDHC):c.241+18T>A rs2102336473
NM_003001.5(SDHC):c.241+19A>G
NM_003001.5(SDHC):c.241+20C>A
NM_003001.5(SDHC):c.241+20C>G
NM_003001.5(SDHC):c.241+3A>G rs1413662099
NM_003001.5(SDHC):c.241+4T>C
NM_003001.5(SDHC):c.241+5G>A rs1167538377
NM_003001.5(SDHC):c.241+5dup rs2102336440
NM_003001.5(SDHC):c.241+7A>C
NM_003001.5(SDHC):c.241+7_241+10del rs1571869349
NM_003001.5(SDHC):c.241+9_241+10del rs1571869349
NM_003001.5(SDHC):c.241G>T (p.Gly81Trp) rs2102336404
NM_003001.5(SDHC):c.242-13G>C
NM_003001.5(SDHC):c.242-20C>G
NM_003001.5(SDHC):c.242-6C>A rs1571889931
NM_003001.5(SDHC):c.242-6C>T rs1571889931
NM_003001.5(SDHC):c.242-9del
NM_003001.5(SDHC):c.243G>A (p.Gly81=)
NM_003001.5(SDHC):c.243G>C (p.Gly81=) rs1314593051
NM_003001.5(SDHC):c.243G>T (p.Gly81=) rs1314593051
NM_003001.5(SDHC):c.244G>A (p.Val82Ile) rs570325845
NM_003001.5(SDHC):c.244G>T (p.Val82Phe) rs570325845
NM_003001.5(SDHC):c.246C>G (p.Val82=) rs2102370246
NM_003001.5(SDHC):c.247T>C (p.Ser83Pro) rs1558182753
NM_003001.5(SDHC):c.247T>G (p.Ser83Ala) rs1558182753
NM_003001.5(SDHC):c.247dup (p.Ser83fs) rs1672284298
NM_003001.5(SDHC):c.24C>A (p.His8Gln) rs761381438
NM_003001.5(SDHC):c.24C>T (p.His8=) rs761381438
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile) rs942160050
NM_003001.5(SDHC):c.250C>G (p.Leu84Val) rs942160050
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg) rs1672284764
NM_003001.5(SDHC):c.252T>C (p.Leu84=)
NM_003001.5(SDHC):c.254T>C (p.Phe85Ser) rs1672284859
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys) rs1672284859
NM_003001.5(SDHC):c.255T>C (p.Phe85=) rs2102370353
NM_003001.5(SDHC):c.257G>A (p.Gly86Asp)
NM_003001.5(SDHC):c.258C>T (p.Gly86=)
NM_003001.5(SDHC):c.259A>G (p.Met87Val) rs756382502
NM_003001.5(SDHC):c.25G>T (p.Val9Phe) rs774768866
NM_003001.5(SDHC):c.260T>C (p.Met87Thr) rs2102370399
NM_003001.5(SDHC):c.267C>T (p.Ala89=)
NM_003001.5(SDHC):c.268C>T (p.Leu90=)
NM_003001.5(SDHC):c.271T>G (p.Leu91Val) rs144532303
NM_003001.5(SDHC):c.274C>T (p.Leu92Phe) rs1672286186
NM_003001.5(SDHC):c.276C>G (p.Leu92=)
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
NM_003001.5(SDHC):c.278dup (p.Gly94fs) rs1483039185
NM_003001.5(SDHC):c.279T>G (p.Pro93=) rs2102370578
NM_003001.5(SDHC):c.282G>T (p.Gly94=) rs536197277
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
NM_003001.5(SDHC):c.290A>G (p.Glu97Gly) rs1672286669
NM_003001.5(SDHC):c.291G>A (p.Glu97=)
NM_003001.5(SDHC):c.291G>C (p.Glu97Asp)
NM_003001.5(SDHC):c.294T>C (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.294T>G (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.296A>G (p.Tyr99Cys) rs1060501390
NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)
NM_003001.5(SDHC):c.297T>C (p.Tyr99=) rs2102370693
NM_003001.5(SDHC):c.29G>C (p.Gly10Ala) rs1670923061
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
NM_003001.5(SDHC):c.2T>G (p.Met1Arg) rs1670517782
NM_003001.5(SDHC):c.301G>A (p.Glu101Lys) rs1571890168
NM_003001.5(SDHC):c.304C>T (p.Leu102Phe) rs1571890177
NM_003001.5(SDHC):c.307G>A (p.Val103Met) rs896411432
NM_003001.5(SDHC):c.308T>A (p.Val103Glu)
NM_003001.5(SDHC):c.30T>C (p.Gly10=) rs1170595036
NM_003001.5(SDHC):c.30T>G (p.Gly10=)
NM_003001.5(SDHC):c.310A>G (p.Lys104Glu)
NM_003001.5(SDHC):c.315C>G (p.Ser105=) rs2102370802
NM_003001.5(SDHC):c.315C>T (p.Ser105=) rs2102370802
NM_003001.5(SDHC):c.316C>G (p.Leu106Val)
NM_003001.5(SDHC):c.318G>A (p.Leu106=) rs1166833684
NM_003001.5(SDHC):c.322C>T (p.Leu108=) rs2102370841
NM_003001.5(SDHC):c.329C>T (p.Pro110Leu) rs776485432
NM_003001.5(SDHC):c.32G>A (p.Arg11His) rs767802663
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu) rs767802663
NM_003001.5(SDHC):c.332C>T (p.Ala111Val)
NM_003001.5(SDHC):c.333A>G (p.Ala111=) rs950221552
NM_003001.5(SDHC):c.334C>T (p.Leu112=) rs1329297940
NM_003001.5(SDHC):c.337A>G (p.Ile113Val) rs1558182863
NM_003001.5(SDHC):c.341A>C (p.His114Pro)
NM_003001.5(SDHC):c.345A>G (p.Thr115=) rs2102371010
NM_003001.5(SDHC):c.348T>C (p.Ala116=)
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
NM_003001.5(SDHC):c.349_350del (p.Lys117fs) rs1672291512
NM_003001.5(SDHC):c.34C>G (p.His12Asp) rs1670923808
NM_003001.5(SDHC):c.350A>G (p.Lys117Arg) rs1571890337
NM_003001.5(SDHC):c.351G>A (p.Lys117=) rs1571890344
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
NM_003001.5(SDHC):c.357A>G (p.Ala119=) rs2102371098
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg) rs1672292051
NM_003001.5(SDHC):c.35A>G (p.His12Arg) rs1670923933
NM_003001.5(SDHC):c.35A>T (p.His12Leu)
NM_003001.5(SDHC):c.360T>C (p.Leu120=) rs2102371131
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
NM_003001.5(SDHC):c.363C>A (p.Val121=)
NM_003001.5(SDHC):c.363C>T (p.Val121=) rs1273832397
NM_003001.5(SDHC):c.364T>C (p.Phe122Leu) rs1553265808
NM_003001.5(SDHC):c.364T>G (p.Phe122Val) rs1553265808
NM_003001.5(SDHC):c.366C>G (p.Phe122Leu) rs868596979
NM_003001.5(SDHC):c.367C>G (p.Pro123Ala) rs773039986
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser) rs773039986
NM_003001.5(SDHC):c.368C>T (p.Pro123Leu) rs1571890413
NM_003001.5(SDHC):c.36T>C (p.His12=)
NM_003001.5(SDHC):c.370C>G (p.Leu124Val) rs1571890420
NM_003001.5(SDHC):c.372C>A (p.Leu124=) rs766007157
NM_003001.5(SDHC):c.373A>G (p.Met125Val) rs771059368
NM_003001.5(SDHC):c.374T>C (p.Met125Thr) rs1060501387
NM_003001.5(SDHC):c.375G>A (p.Met125Ile)
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.379C>A (p.His127Asn) rs1485675090
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.379C>T (p.His127Tyr) rs1485675090
NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)
NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)
NM_003001.5(SDHC):c.381T>C (p.His127=) rs867566924
NM_003001.5(SDHC):c.384C>T (p.Thr128=) rs1553265821
NM_003001.5(SDHC):c.385T>C (p.Trp129Arg) rs541278701
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) rs981049067
NM_003001.5(SDHC):c.387G>C (p.Trp129Cys) rs981049067
NM_003001.5(SDHC):c.38G>A (p.Cys13Tyr) rs1558164528
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser) rs1558164528
NM_003001.5(SDHC):c.38G>T (p.Cys13Phe) rs1558164528
NM_003001.5(SDHC):c.390T>C (p.Asn130=) rs2102371399
NM_003001.5(SDHC):c.393G>A (p.Gly131=)
NM_003001.5(SDHC):c.393G>T (p.Gly131=)
NM_003001.5(SDHC):c.394A>G (p.Ile132Val) rs2102371416
NM_003001.5(SDHC):c.396C>A (p.Ile132=)
NM_003001.5(SDHC):c.399A>G (p.Arg133=)
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.5(SDHC):c.402C>T (p.His134=) rs754213041
NM_003001.5(SDHC):c.403T>A (p.Leu135Met) rs1455783076
NM_003001.5(SDHC):c.405+11T>G rs2102371559
NM_003001.5(SDHC):c.405+12C>A
NM_003001.5(SDHC):c.405+13G>T
NM_003001.5(SDHC):c.405+15G>A rs768628609
NM_003001.5(SDHC):c.405+16A>C rs2102371614
NM_003001.5(SDHC):c.405+18T>C
NM_003001.5(SDHC):c.405+1G>A rs587776653
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.405+1del rs1558182956
NM_003001.5(SDHC):c.405+6T>G
NM_003001.5(SDHC):c.405+7T>A
NM_003001.5(SDHC):c.405G>T (p.Leu135Phe) rs757663926
NM_003001.5(SDHC):c.406-10T>C rs1060504225
NM_003001.5(SDHC):c.406-10T>G rs1060504225
NM_003001.5(SDHC):c.406-2A>C
NM_003001.5(SDHC):c.406-3C>T rs372490900
NM_003001.5(SDHC):c.406-4A>G
NM_003001.5(SDHC):c.406-5C>T rs1442391429
NM_003001.5(SDHC):c.406-5del
NM_003001.5(SDHC):c.406-6C>G rs1337338303
NM_003001.5(SDHC):c.406-7T>C rs1672546572
NM_003001.5(SDHC):c.406-8G>A rs747093483
NM_003001.5(SDHC):c.406-8G>T rs747093483
NM_003001.5(SDHC):c.406A>C (p.Met136Leu) rs1486341484
NM_003001.5(SDHC):c.409T>C (p.Trp137Arg) rs890210469
NM_003001.5(SDHC):c.410G>T (p.Trp137Leu) rs1060501385
NM_003001.5(SDHC):c.417A>G (p.Leu139=)
NM_003001.5(SDHC):c.419G>A (p.Gly140Glu)
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg) rs1558185879
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.423A>G (p.Lys141=) rs2102385065
NM_003001.5(SDHC):c.424G>T (p.Gly142Cys) rs2102385085
NM_003001.5(SDHC):c.426C>T (p.Gly142=)
NM_003001.5(SDHC):c.432G>T (p.Lys144Asn) rs1366410028
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr) rs1553266487
NM_003001.5(SDHC):c.435T>A (p.Ile145=)
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
NM_003001.5(SDHC):c.438C>A (p.Pro146=) rs1418513098
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter) rs1571898957
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly) rs201286421
NM_003001.5(SDHC):c.441G>A (p.Gln147=)
NM_003001.5(SDHC):c.441G>T (p.Gln147His)
NM_003001.5(SDHC):c.442C>T (p.Leu148=)
NM_003001.5(SDHC):c.444A>G (p.Leu148=) rs377230417
NM_003001.5(SDHC):c.445T>C (p.Tyr149His) rs2102385345
NM_003001.5(SDHC):c.448C>A (p.Gln150Lys) rs773142195
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln) rs1294873008
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro) rs1558185927
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr) rs1571899020
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)
NM_003001.5(SDHC):c.453T>C (p.Ser151=) rs2102385466
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg) rs1558185932
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu) rs1060501386
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
NM_003001.5(SDHC):c.455G>T (p.Gly152Val) rs1060501386
NM_003001.5(SDHC):c.456A>C (p.Gly152=) rs886251473
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
NM_003001.5(SDHC):c.457G>T (p.Val153Leu)
NM_003001.5(SDHC):c.45A>T (p.Arg15=) rs1007336839
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
NM_003001.5(SDHC):c.460del (p.Val154fs) rs786201665
NM_003001.5(SDHC):c.462T>C (p.Val154=) rs2102385569
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
NM_003001.5(SDHC):c.464T>C (p.Val155Ala) rs1672552536
NM_003001.5(SDHC):c.465C>G (p.Val155=) rs1060504223
NM_003001.5(SDHC):c.466C>T (p.Leu156=) rs1553266500
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr) rs878994954
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
NM_003001.5(SDHC):c.474T>G (p.Leu158=) rs2102385657
NM_003001.5(SDHC):c.474_477del (p.Thr159fs)
NM_003001.5(SDHC):c.475A>C (p.Thr159Pro) rs2102385668
NM_003001.5(SDHC):c.477T>A (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.477T>C (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.478G>A (p.Val160Met) rs1553266502
NM_003001.5(SDHC):c.47C>A (p.Ala16Asp) rs1558164567
NM_003001.5(SDHC):c.483G>A (p.Leu161=)
NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys) rs1553266504
NM_003001.5(SDHC):c.485C>T (p.Ser162Phe) rs1553266504
NM_003001.5(SDHC):c.486C>T (p.Ser162=) rs2102385816
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro) rs1553266506
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
NM_003001.5(SDHC):c.48C>G (p.Ala16=) rs1553261765
NM_003001.5(SDHC):c.490A>G (p.Met164Val) rs200375156
NM_003001.5(SDHC):c.491T>C (p.Met164Thr)
NM_003001.5(SDHC):c.495G>A (p.Gly165=) rs2102385878
NM_003001.5(SDHC):c.495G>T (p.Gly165=) rs2102385878
NM_003001.5(SDHC):c.496C>T (p.Leu166=) rs2102385898
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg) rs1571899223
NM_003001.5(SDHC):c.497dup (p.Ala167fs)
NM_003001.5(SDHC):c.49C>T (p.His17Tyr) rs2102295552
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr) rs1198315342
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro) rs1198315342
NM_003001.5(SDHC):c.500C>T (p.Ala167Val)
NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr) rs1672554961
NM_003001.5(SDHC):c.504C>T (p.Ala168=) rs1571899229
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
NM_003001.5(SDHC):c.505_507delinsTTT (p.Met169Phe) rs1571899249
NM_003001.5(SDHC):c.508T>C (p.Ter170Arg) rs1672555380
NM_003001.5(SDHC):c.54T>C (p.Phe18=) rs200761743
NM_003001.5(SDHC):c.55A>G (p.Ser19Gly) rs1670926798
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
NM_003001.5(SDHC):c.60T>G (p.Pro20=) rs2102295634
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu) rs1553261768
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
NM_003001.5(SDHC):c.63G>A (p.Gln21=)
NM_003001.5(SDHC):c.66C>G (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.66C>T (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.66_74del (p.Cys23_Arg25del)
NM_003001.5(SDHC):c.67T>C (p.Cys23Arg) rs2102295690
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
NM_003001.5(SDHC):c.6T>A (p.Ala2=)
NM_003001.5(SDHC):c.6T>C (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.6T>G (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.71T>A (p.Ile24Asn) rs2102295698
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly) rs878854587
NM_003001.5(SDHC):c.74G>T (p.Arg25Ile)
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp) rs1670928309
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.77+2dup rs766486676
NM_003001.5(SDHC):c.77+5G>C
NM_003001.5(SDHC):c.77+9C>G
NM_003001.5(SDHC):c.77+9C>T rs2102295766
NM_003001.5(SDHC):c.77A>G (p.Asn26Ser) rs1670928456
NM_003001.5(SDHC):c.78-15C>T
NM_003001.5(SDHC):c.78-16T>C rs2102307516
NM_003001.5(SDHC):c.78-17G>A
NM_003001.5(SDHC):c.78-19C>A rs144770080
NM_003001.5(SDHC):c.78-19del
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003001.5(SDHC):c.78-2A>G
NM_003001.5(SDHC):c.78-9T>G rs2102307530
NM_003001.5(SDHC):c.78T>C (p.Asn26=)
NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser) rs748243732
NM_003001.5(SDHC):c.80C>T (p.Ala27Val)
NM_003001.5(SDHC):c.81T>C (p.Ala27=) rs876659297
NM_003001.5(SDHC):c.82G>A (p.Val28Ile) rs754818119
NM_003001.5(SDHC):c.82G>C (p.Val28Leu) rs754818119
NM_003001.5(SDHC):c.86C>T (p.Pro29Leu) rs1671145169
NM_003001.5(SDHC):c.86del (p.Pro29fs) rs1671145065
NM_003001.5(SDHC):c.8C>A (p.Ala3Glu) rs142139022
NM_003001.5(SDHC):c.91G>C (p.Gly31Arg)
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala) rs1457574786
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn) rs1571851464
NM_003001.5(SDHC):c.95C>G (p.Thr32Ser) rs1571851464
NM_003001.5(SDHC):c.96C>T (p.Thr32=) rs1671145722
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala) rs747828462
NM_003001.5(SDHC):c.98C>A (p.Thr33Lys) rs148566767

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