PMID: 28809811

Mutation Clusters from Cancer Exome.

Genes
Z Kakushadze, W Yu
2017-08-15

470 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-30544194-G-T GGCT c.132C>A p.Ala44Ala Synonymous 1/4 -
9-72132046-GG-AG APBA1 c.80_81delCCinsAG p.Ala27Glu Missense 2/13 -
16-29675116-GCA-ATG SPN c.67_69delGCAinsATG p.Ala23Met Missense 2/2 -
16-29675212-GCC-TGG SPN c.163_165delGCCinsTGG p.Ala55Trp Missense 2/2 -
X-153847267-G-C CTAG1B c.203C>G p.Ala68Gly Missense 1/3 -
9-71650726-G-A FXN c.28G>A p.Ala10Thr Missense 1/5 -
12-133263870-GC-AT POLE c.31_32delGCinsAT p.Ala11Met Missense 1/49 -
X-153847354-G-A CTAG1B c.116C>T p.Ala39Val Missense 1/3 -
6-10529180-G-T GCNT2 c.36G>T p.Ala12Ala Synonymous 3/5 -
1-229568792-GC-CT ACTA1 c.70_71delGCinsCT p.Ala24Leu Missense 2/7 -
1-229568792-GC-CA ACTA1 c.70_71delGCinsCA p.Ala24His Missense 2/7 -
1-27720490-C-T GPR3 c.188C>T p.Ala63Val Missense 2/2 -
16-29675118-A-T SPN c.69A>T p.Ala23Ala Synonymous 2/2 -
17-79479316-GC-AA ACTG1 c.64_65delGCinsAA p.Ala22Asn Missense 2/6 -
12-133263858-GC-AG POLE c.43_44delGCinsAG p.Ala15Arg Missense 1/49 -
12-133263858-GC-AA POLE c.43_44delGCinsAA p.Ala15Lys Missense 1/49 -
1-168549409-C-A XCL1 c.170C>A p.Ala57Glu Missense 2/3 -
6-10529178-GC-CT GCNT2 c.34_35delGCinsCT p.Ala12Leu Missense 3/5 -
6-10529178-GC-CA GCNT2 c.34_35delGCinsCA p.Ala12Gln Missense 3/5 -
12-133263869-CG-AC POLE c.32_33delCGinsAC p.Ala11Asp Missense 1/49 -
16-29675118-A-G SPN c.69A>G p.Ala23Ala Synonymous 2/2 -
12-133263845-G-A POLE c.57C>T p.Ala19Ala Synonymous 1/49 -
16-29675118-A-C SPN c.69A>C p.Ala23Ala Synonymous 2/2 -
16-89371642-GGC-TAA ANKRD11 c.196_198delGCCinsTAA p.Ala66* Nonsense 4/13 -
9-71650840-GC-AA FXN c.142_143delGCinsAA p.Ala48Lys Missense 1/5 -
9-71650840-GC-AG FXN c.142_143delGCinsAG p.Ala48Arg Missense 1/5 -
12-133257235-TGC-CAT POLE c.241_243delGCAinsCAT p.Ala81His Missense 3/49 -
9-72131851-GGC-TAA APBA1 c.274_276delGCCinsTAA p.Ala92* Nonsense 2/13 -
12-133263871-C-A POLE c.31G>T p.Ala11Ser Missense 1/49 -
9-72132046-GGC-AAG APBA1 c.79_81delGCCinsAAG p.Ala27Lys Missense 2/13 -
1-168550321-GC-AA XCL1 c.208_209delGCinsAA p.Ala70Asn Missense 3/3 -
9-71650726-G-T FXN c.28G>T p.Ala10Ser Missense 1/5 -
9-72131899-C-G APBA1 c.228G>C p.Ala76Ala Synonymous 2/13 -
9-72131899-C-A APBA1 c.228G>T p.Ala76Ala Synonymous 2/13 -
9-72131899-C-T APBA1 c.228G>A p.Ala76Ala Synonymous 2/13 -
1-168550321-GC-AT XCL1 c.208_209delGCinsAT p.Ala70Ile Missense 3/3 -
17-79479316-GC-AT ACTG1 c.64_65delGCinsAT p.Ala22Ile Missense 2/6 -
9-72132080-GC-AG APBA1 c.46_47delGCinsAG p.Ala16Arg Missense 2/13 -
12-133257855-C-A POLE c.73G>T p.Ala25Ser Missense 2/49 -
16-29675116-G-A SPN c.67G>A p.Ala23Thr Missense 2/2 -
X-153847230-GGC-ATG CTAG1B c.238_240delGCCinsATG p.Ala80Met Missense 1/3 -
16-89357537-GC-AT ANKRD11 c.280_281delGCinsAT p.Ala94Ile Missense 5/13 -
12-133257235-TG-AC POLE c.242_243delCAinsAC p.Ala81Asp Missense 3/49 -
1-27720477-GCG-TAT GPR3 c.175_177delGCGinsTAT p.Ala59Tyr Missense 2/2 -
6-10529179-C-A GCNT2 c.35C>A p.Ala12Glu Missense 3/5 -
1-27720568-CA-AC GPR3 c.266_267delCAinsAC p.Ala89Asp Missense 2/2 -
6-10529334-GC-CT GCNT2 c.190_191delGCinsCT p.Ala64Leu Missense 3/5 -
6-10529180-G-C GCNT2 c.36G>C p.Ala12Ala Synonymous 3/5 -
6-10529180-G-A GCNT2 c.36G>A p.Ala12Ala Synonymous 3/5 -
17-79479316-G-C ACTG1 c.65C>G p.Ala22Gly Missense 2/6 -
16-89371643-GC-AT ANKRD11 c.196_197delGCinsAT p.Ala66Ile Missense 4/13 -
17-79479294-GGC-CAA ACTG1 c.85_87delGCCinsCAA p.Ala29Gln Missense 2/6 -
7-30544194-GGC-AAG GGCT c.130_132delGCCinsAAG p.Ala44Lys Missense 1/4 -
17-79479295-GC-AA ACTG1 c.85_86delGCinsAA p.Ala29Asn Missense 2/6 -
X-153847318-G-C CTAG1B c.152C>G p.Ala51Gly Missense 1/3 -
7-30544194-G-A GGCT c.132C>T p.Ala44Ala Synonymous 1/4 -
9-71650841-CG-AC FXN c.143_144delCGinsAC p.Ala48Asp Missense 1/5 -
X-153847266-CG-AC CTAG1B c.203_204delCGinsAC p.Ala68Asp Missense 1/3 -
12-133257854-G-C POLE c.74C>G p.Ala25Gly Missense 2/49 -
12-133257854-G-A POLE c.74C>T p.Ala25Val Missense 2/49 -
6-10529334-GC-AG GCNT2 c.190_191delGCinsAG p.Ala64Arg Missense 3/5 -
12-133263857-CGC-CAT POLE c.43_45delGCGinsCAT p.Ala15His Missense 1/49 -
X-153847230-GGC-AAG CTAG1B c.238_240delGCCinsAAG p.Ala80Lys Missense 1/3 -
12-133263858-G-T POLE c.44C>A p.Ala15Glu Missense 1/49 -
12-133263869-C-A POLE c.33G>T p.Ala11Ala Synonymous 1/49 -
12-133263869-C-G POLE c.33G>C p.Ala11Ala Synonymous 1/49 -
12-133263845-GG-AG POLE c.56_57delCCinsAG p.Ala19Glu Missense 1/49 -
6-10529179-C-T GCNT2 c.35C>T p.Ala12Val Missense 3/5 -
12-133263857-CGC-TGT POLE c.43_45delGCGinsTGT p.Ala15Cys Missense 1/49 -
16-29675116-GCA-TAT SPN c.67_69delGCAinsTAT p.Ala23Tyr Missense 2/2 -
1-27720520-CC-AG GPR3 c.218_219delCCinsAG p.Ala73Glu Missense 2/2 -
1-168550322-C-A XCL1 c.209C>A p.Ala70Asp Missense 3/3 -
1-168550322-C-G XCL1 c.209C>G p.Ala70Gly Missense 3/3 -
1-168550322-C-T XCL1 c.209C>T p.Ala70Val Missense 3/3 -
12-133263857-CGC-ATC POLE c.43_45delGCGinsATC p.Ala15Ile Missense 1/49 -
1-168550322-CT-AG XCL1 c.209_210delCTinsAG p.Ala70Glu Missense 3/3 -
X-153847231-GC-TA CTAG1B c.238_239delGCinsTA p.Ala80Tyr Missense 1/3 -
3-75790863-C-T ZNF717 c.82G>A p.Ala28Thr Missense 3/5 -
1-229568791-G-T ACTA1 c.72C>A p.Ala24Ala Synonymous 2/7 -
9-72131899-CGC-TGT APBA1 c.226_228delGCGinsTGT p.Ala76Cys Missense 2/13 -
9-71650842-G-C FXN c.144G>C p.Ala48Ala Synonymous 1/5 -
9-71650842-G-A FXN c.144G>A p.Ala48Ala Synonymous 1/5 -
9-71650842-G-T FXN c.144G>T p.Ala48Ala Synonymous 1/5 -
X-153847231-G-C CTAG1B c.239C>G p.Ala80Gly Missense 1/3 -
16-89371642-GGC-AAG ANKRD11 c.196_198delGCCinsAAG p.Ala66Lys Missense 4/13 -
12-133257853-GG-AG POLE c.74_75delCCinsAG p.Ala25Glu Missense 2/49 -
9-72132048-C-G APBA1 c.79G>C p.Ala27Pro Missense 2/13 -
12-133263870-GC-AG POLE c.31_32delGCinsAG p.Ala11Arg Missense 1/49 -
17-79479303-AGC-TGG ACTG1 c.76_78delGCTinsTGG p.Ala26Trp Missense 2/6 -
9-71650840-GCG-TGT FXN c.142_144delGCGinsTGT p.Ala48Cys Missense 1/5 -
X-153847230-GGC-CAA CTAG1B c.238_240delGCCinsCAA p.Ala80Gln Missense 1/3 -
1-229568791-GGC-ATG ACTA1 c.70_72delGCCinsATG p.Ala24Met Missense 2/7 -
X-153847266-CGC-TTT CTAG1B c.202_204delGCGinsTTT p.Ala68Phe Missense 1/3 -
9-72132080-GC-CA APBA1 c.46_47delGCinsCA p.Ala16Gln Missense 2/13 -
9-72132047-GC-CG APBA1 c.79_80delGCinsCG p.Ala27Arg Missense 2/13 -
17-79479303-A-C ACTG1 c.78T>G p.Ala26Ala Synonymous 2/6 -
17-79479304-G-C ACTG1 c.77C>G p.Ala26Gly Missense 2/6 -
17-79479304-G-T ACTG1 c.77C>A p.Ala26Asp Missense 2/6 -
1-27720477-GC-AG GPR3 c.175_176delGCinsAG p.Ala59Arg Missense 2/2 -
7-30544194-GGC-CAA GGCT c.130_132delGCCinsCAA p.Ala44Gln Missense 1/4 -
16-29675098-GC-CT SPN c.49_50delGCinsCT p.Ala17Leu Missense 2/2 -
16-29675098-GC-CA SPN c.49_50delGCinsCA p.Ala17His Missense 2/2 -
6-10529334-GCA-TGG GCNT2 c.190_192delGCAinsTGG p.Ala64Trp Missense 3/5 -
13-46658383-GG-AG CPB2 c.245_246delCCinsAG p.Ala82Glu Missense 3/11 -
3-75790820-G-A ZNF717 c.125C>T p.Ala42Val Missense 3/5 -
1-27720520-C-G GPR3 c.218C>G p.Ala73Gly Missense 2/2 -
X-153847290-GGC-AAG CTAG1B c.178_180delGCCinsAAG p.Ala60Lys Missense 1/3 -
9-72131853-C-T APBA1 c.274G>A p.Ala92Thr Missense 2/13 -
6-10529280-GC-AT GCNT2 c.136_137delGCinsAT p.Ala46Ile Missense 3/5 -
9-72132046-G-C APBA1 c.81C>G p.Ala27Ala Synonymous 2/13 -
6-10529179-CG-AC GCNT2 c.35_36delCGinsAC p.Ala12Asp Missense 3/5 -
7-30544194-GGC-ATG GGCT c.130_132delGCCinsATG p.Ala44Met Missense 1/4 -
9-72132046-G-T APBA1 c.81C>A p.Ala27Ala Synonymous 2/13 -
12-133257235-TGC-TTT POLE c.241_243delGCAinsTTT p.Ala81Phe Missense 3/49 -
1-27720519-GC-CG GPR3 c.217_218delGCinsCG p.Ala73Arg Missense 2/2 -
1-168550321-G-A XCL1 c.208G>A p.Ala70Thr Missense 3/3 -
1-168550323-T-G XCL1 c.210T>G p.Ala70Ala Synonymous 3/3 -
1-168550323-T-C XCL1 c.210T>C p.Ala70Ala Synonymous 3/3 -
6-10529178-GCG-TAT GCNT2 c.34_36delGCGinsTAT p.Ala12Tyr Missense 3/5 -
12-133263870-G-C POLE c.32C>G p.Ala11Gly Missense 1/49 -
12-133263870-G-A POLE c.32C>T p.Ala11Val Missense 1/49 -
1-168550321-G-C XCL1 c.208G>C p.Ala70Pro Missense 3/3 -
3-75790471-GC-AG ZNF717 c.232_233delGCinsAG p.Ala78Arg Missense 4/5 -
9-72132046-GGC-TGG APBA1 c.79_81delGCCinsTGG p.Ala27Trp Missense 2/13 -
9-72131942-GC-TA APBA1 c.184_185delGCinsTA p.Ala62Tyr Missense 2/13 -
9-72132047-GC-TT APBA1 c.79_80delGCinsTT p.Ala27Phe Missense 2/13 -
9-72132081-C-A APBA1 c.46G>T p.Ala16Ser Missense 2/13 -
12-133263847-C-T POLE c.55G>A p.Ala19Thr Missense 1/49 -
12-133263847-C-A POLE c.55G>T p.Ala19Ser Missense 1/49 -
9-72132076-TGC-TAT APBA1 c.49_51delGCAinsTAT p.Ala17Tyr Missense 2/13 -
1-229568791-G-C ACTA1 c.72C>G p.Ala24Ala Synonymous 2/7 -
1-229568791-G-A ACTA1 c.72C>T p.Ala24Ala Synonymous 2/7 -
1-168550321-GCT-ATG XCL1 c.208_210delGCTinsATG p.Ala70Met Missense 3/3 -
1-229568791-GGC-TAA ACTA1 c.70_72delGCCinsTAA p.Ala24* Nonsense 2/7 -
X-153847291-GC-CT CTAG1B c.178_179delGCinsCT p.Ala60Leu Missense 1/3 -
9-71650840-GCG-AAC FXN c.142_144delGCGinsAAC p.Ala48Asn Missense 1/5 -
1-168550321-GCT-CAA XCL1 c.208_210delGCTinsCAA p.Ala70Gln Missense 3/3 -
3-75790819-AGC-TGG ZNF717 c.124_126delGCTinsTGG p.Ala42Trp Missense 3/5 -
1-27720489-GC-TA GPR3 c.187_188delGCinsTA p.Ala63Tyr Missense 2/2 -
17-79479305-C-A ACTG1 c.76G>T p.Ala26Ser Missense 2/6 -
12-133263858-GC-TA POLE c.43_44delGCinsTA p.Ala15* Nonsense 1/49 -
12-133263858-GC-TG POLE c.43_44delGCinsTG p.Ala15Trp Missense 1/49 -
12-133263869-CGC-TAT POLE c.31_33delGCGinsTAT p.Ala11Tyr Missense 1/49 -
9-72131960-G-T APBA1 c.167C>A p.Ala56Asp Missense 2/13 -
9-72131960-G-C APBA1 c.167C>G p.Ala56Gly Missense 2/13 -
9-72131851-GGC-TGG APBA1 c.274_276delGCCinsTGG p.Ala92Trp Missense 2/13 -
6-10529178-G-A GCNT2 c.34G>A p.Ala12Thr Missense 3/5 -
9-72132079-CGC-ATC APBA1 c.46_48delGCGinsATC p.Ala16Ile Missense 2/13 -
X-153847264-G-A CTAG1B c.206C>T p.Ala69Val Missense 1/3 -
12-133263846-GC-AA POLE c.55_56delGCinsAA p.Ala19Asn Missense 1/49 -
1-168550321-GCT-AAG XCL1 c.208_210delGCTinsAAG p.Ala70Lys Missense 3/3 -
9-72132046-G-A APBA1 c.81C>T p.Ala27Ala Synonymous 2/13 -
1-229568793-C-A ACTA1 c.70G>T p.Ala24Ser Missense 2/7 -
X-153847265-C-G CTAG1B c.205G>C p.Ala69Pro Missense 1/3 -
X-153847231-G-A CTAG1B c.239C>T p.Ala80Val Missense 1/3 -
16-29675117-C-T SPN c.68C>T p.Ala23Val Missense 2/2 -
1-229568793-C-G ACTA1 c.70G>C p.Ala24Pro Missense 2/7 -
1-229568793-C-T ACTA1 c.70G>A p.Ala24Thr Missense 2/7 -
12-133263870-GC-CA POLE c.31_32delGCinsCA p.Ala11Gln Missense 1/49 -
9-71650739-C-T FXN c.41C>T p.Ala14Val Missense 1/5 -
9-72131961-C-A APBA1 c.166G>T p.Ala56Ser Missense 2/13 -
9-72132079-CG-AC APBA1 c.47_48delCGinsAC p.Ala16Asp Missense 2/13 -
6-10529334-G-T GCNT2 c.190G>T p.Ala64Ser Missense 3/5 -
X-153847317-TGC-TTT CTAG1B c.151_153delGCAinsTTT p.Ala51Phe Missense 1/3 -
12-133257855-C-T POLE c.73G>A p.Ala25Thr Missense 2/49 -
9-71650738-G-C FXN c.40G>C p.Ala14Pro Missense 1/5 -
X-153847318-G-T CTAG1B c.152C>A p.Ala51Glu Missense 1/3 -
9-72131851-GGC-CAA APBA1 c.274_276delGCCinsCAA p.Ala92Gln Missense 2/13 -
X-153847263-AGC-ATG CTAG1B c.205_207delGCTinsATG p.Ala69Met Missense 1/3 -
17-79479295-GC-TG ACTG1 c.85_86delGCinsTG p.Ala29Cys Missense 2/6 -
6-10529178-G-C GCNT2 c.34G>C p.Ala12Pro Missense 3/5 -
1-168550333-GCC-TAA XCL1 c.220_222delGCCinsTAA p.Ala74* Nonsense 3/3 -
6-10529334-G-C GCNT2 c.190G>C p.Ala64Pro Missense 3/5 -
3-75790819-AGC-TAA ZNF717 c.124_126delGCTinsTAA p.Ala42* Nonsense 3/5 -
X-153847353-GGC-TAA CTAG1B c.115_117delGCCinsTAA p.Ala39* Nonsense 1/3 -
7-30544195-G-C GGCT c.131C>G p.Ala44Gly Missense 1/4 -
16-29675100-T-G SPN c.51T>G p.Ala17Ala Synonymous 2/2 -
6-10529280-GCA-CAT GCNT2 c.136_138delGCAinsCAT p.Ala46His Missense 3/5 -
12-133263869-CGC-TTT POLE c.31_33delGCGinsTTT p.Ala11Phe Missense 1/49 -
16-29675100-T-A SPN c.51T>A p.Ala17Ala Synonymous 2/2 -
12-133263846-GC-CT POLE c.55_56delGCinsCT p.Ala19Leu Missense 1/49 -
12-133257237-C-T POLE c.241G>A p.Ala81Thr Missense 3/49 -
6-10529178-GC-TG GCNT2 c.34_35delGCinsTG p.Ala12Trp Missense 3/5 -
6-10529178-GC-TA GCNT2 c.34_35delGCinsTA p.Ala12* Nonsense 3/5 -
6-10529281-C-A GCNT2 c.137C>A p.Ala46Glu Missense 3/5 -
6-10529281-C-G GCNT2 c.137C>G p.Ala46Gly Missense 3/5 -
12-133257236-GC-AT POLE c.241_242delGCinsAT p.Ala81Ile Missense 3/49 -
1-168550333-GC-CT XCL1 c.220_221delGCinsCT p.Ala74Leu Missense 3/3 -
9-71650841-C-G FXN c.143C>G p.Ala48Gly Missense 1/5 -
1-168550333-GC-CA XCL1 c.220_221delGCinsCA p.Ala74His Missense 3/3 -
1-168550321-GC-TA XCL1 c.208_209delGCinsTA p.Ala70Tyr Missense 3/3 -
1-168550321-GC-TG XCL1 c.208_209delGCinsTG p.Ala70Cys Missense 3/3 -
17-79479304-GC-TA ACTG1 c.76_77delGCinsTA p.Ala26Tyr Missense 2/6 -
17-79479304-GC-TT ACTG1 c.76_77delGCinsTT p.Ala26Phe Missense 2/6 -
X-153847232-C-G CTAG1B c.238G>C p.Ala80Pro Missense 1/3 -
1-27720519-GCC-ATG GPR3 c.217_219delGCCinsATG p.Ala73Met Missense 2/2 -
12-133257236-G-C POLE c.242C>G p.Ala81Gly Missense 3/49 -
9-72131852-GC-TA APBA1 c.274_275delGCinsTA p.Ala92Tyr Missense 2/13 -
9-72132046-GGC-ATG APBA1 c.79_81delGCCinsATG p.Ala27Met Missense 2/13 -
12-133263857-CG-AC POLE c.44_45delCGinsAC p.Ala15Asp Missense 1/49 -
9-72132079-CGC-TTT APBA1 c.46_48delGCGinsTTT p.Ala16Phe Missense 2/13 -
12-133257853-G-A POLE c.75C>T p.Ala25Ala Synonymous 2/49 -
12-133257853-G-C POLE c.75C>G p.Ala25Ala Synonymous 2/49 -
X-153847267-GC-CA CTAG1B c.202_203delGCinsCA p.Ala68Gln Missense 1/3 -
7-30544196-C-T GGCT c.130G>A p.Ala44Thr Missense 1/4 -
3-75788496-G-T ZNF717 c.278C>A p.Ala93Asp Missense 5/5 -
17-79479316-GC-CT ACTG1 c.64_65delGCinsCT p.Ala22Leu Missense 2/6 -
1-27720519-G-C GPR3 c.217G>C p.Ala73Pro Missense 2/2 -
3-75790820-GC-CT ZNF717 c.124_125delGCinsCT p.Ala42Leu Missense 3/5 -
17-79479304-GC-AT ACTG1 c.76_77delGCinsAT p.Ala26Ile Missense 2/6 -
3-75790862-GC-TG ZNF717 c.82_83delGCinsTG p.Ala28Cys Missense 3/5 -
12-133257854-G-T POLE c.74C>A p.Ala25Asp Missense 2/49 -
16-89357537-G-T ANKRD11 c.281C>A p.Ala94Asp Missense 5/13 -
7-30544196-C-A GGCT c.130G>T p.Ala44Ser Missense 1/4 -
1-168550323-T-A XCL1 c.210T>A p.Ala70Ala Synonymous 3/3 -
12-133257237-C-G POLE c.241G>C p.Ala81Pro Missense 3/49 -
12-133257237-C-A POLE c.241G>T p.Ala81Ser Missense 3/49 -
3-75790820-GC-CA ZNF717 c.124_125delGCinsCA p.Ala42His Missense 3/5 -
12-133263870-G-T POLE c.32C>A p.Ala11Glu Missense 1/49 -
12-133263869-CGC-TGT POLE c.31_33delGCGinsTGT p.Ala11Cys Missense 1/49 -
1-168550321-GC-CA XCL1 c.208_209delGCinsCA p.Ala70His Missense 3/3 -
16-89371643-G-C ANKRD11 c.197C>G p.Ala66Gly Missense 4/13 -
16-89371643-G-A ANKRD11 c.197C>T p.Ala66Val Missense 4/13 -
16-89371643-G-T ANKRD11 c.197C>A p.Ala66Asp Missense 4/13 -
12-133257853-GGC-TGG POLE c.73_75delGCCinsTGG p.Ala25Trp Missense 2/49 -
9-71650726-GC-TG FXN c.28_29delGCinsTG p.Ala10Cys Missense 1/5 -
9-71650726-GC-TT FXN c.28_29delGCinsTT p.Ala10Phe Missense 1/5 -
17-79479296-C-G ACTG1 c.85G>C p.Ala29Pro Missense 2/6 -
1-27720519-GCC-CAA GPR3 c.217_219delGCCinsCAA p.Ala73Gln Missense 2/2 -
9-72131852-G-A APBA1 c.275C>T p.Ala92Val Missense 2/13 -
X-153847267-GC-TG CTAG1B c.202_203delGCinsTG p.Ala68Trp Missense 1/3 -
9-71650726-GC-TA FXN c.28_29delGCinsTA p.Ala10Tyr Missense 1/5 -
9-72131900-GC-AA APBA1 c.226_227delGCinsAA p.Ala76Lys Missense 2/13 -
17-79479304-G-A ACTG1 c.77C>T p.Ala26Val Missense 2/6 -
12-133257236-GC-CA POLE c.241_242delGCinsCA p.Ala81Gln Missense 3/49 -
9-72131941-GGC-TAA APBA1 c.184_186delGCCinsTAA p.Ala62* Nonsense 2/13 -
12-133263846-G-C POLE c.56C>G p.Ala19Gly Missense 1/49 -
12-133263846-G-T POLE c.56C>A p.Ala19Asp Missense 1/49 -
1-168550335-C-G XCL1 c.222C>G p.Ala74Ala Synonymous 3/3 -
9-71650738-G-A FXN c.40G>A p.Ala14Thr Missense 1/5 -
9-71650738-G-T FXN c.40G>T p.Ala14Ser Missense 1/5 -
16-29675098-GC-TG SPN c.49_50delGCinsTG p.Ala17Cys Missense 2/2 -
17-79479304-GC-CA ACTG1 c.76_77delGCinsCA p.Ala26His Missense 2/6 -
9-71650841-C-T FXN c.143C>T p.Ala48Val Missense 1/5 -
9-71650728-C-T FXN c.30C>T p.Ala10Ala Synonymous 1/5 -
1-27720489-GCC-TGG GPR3 c.187_189delGCCinsTGG p.Ala63Trp Missense 2/2 -
12-133263858-GC-AT POLE c.43_44delGCinsAT p.Ala15Met Missense 1/49 -
1-27720521-C-G GPR3 c.219C>G p.Ala73Ala Synonymous 2/2 -
X-153847317-TGC-TGG CTAG1B c.151_153delGCAinsTGG p.Ala51Trp Missense 1/3 -
1-168550335-C-T XCL1 c.222C>T p.Ala74Ala Synonymous 3/3 -
1-168550335-C-A XCL1 c.222C>A p.Ala74Ala Synonymous 3/3 -
9-71650738-GCG-TAT FXN c.40_42delGCGinsTAT p.Ala14Tyr Missense 1/5 -
12-133263869-C-T POLE c.33G>A p.Ala11Ala Synonymous 1/49 -
X-153847318-GC-AA CTAG1B c.151_152delGCinsAA p.Ala51Lys Missense 1/3 -
X-153847318-GC-AG CTAG1B c.151_152delGCinsAG p.Ala51Arg Missense 1/3 -
9-71650738-GC-AG FXN c.40_41delGCinsAG p.Ala14Arg Missense 1/5 -
16-29675100-T-C SPN c.51T>C p.Ala17Ala Synonymous 2/2 -
1-229568791-GGC-TGG ACTA1 c.70_72delGCCinsTGG p.Ala24Trp Missense 2/7 -
17-79479296-C-T ACTG1 c.85G>A p.Ala29Thr Missense 2/6 -
9-71650727-CC-AG FXN c.29_30delCCinsAG p.Ala10Glu Missense 1/5 -
12-133257236-G-A POLE c.242C>T p.Ala81Val Missense 3/49 -
3-75790861-AGC-AAG ZNF717 c.82_84delGCTinsAAG p.Ala28Lys Missense 3/5 -
17-79479296-C-A ACTG1 c.85G>T p.Ala29Ser Missense 2/6 -
X-153847318-GC-TA CTAG1B c.151_152delGCinsTA p.Ala51* Nonsense 1/3 -
6-10529334-GC-TA GCNT2 c.190_191delGCinsTA p.Ala64* Nonsense 3/5 -
9-71650728-C-G FXN c.30C>G p.Ala10Ala Synonymous 1/5 -
9-71650728-C-A FXN c.30C>A p.Ala10Ala Synonymous 1/5 -
9-71650738-GC-TG FXN c.40_41delGCinsTG p.Ala14Trp Missense 1/5 -
9-71650738-GC-TA FXN c.40_41delGCinsTA p.Ala14* Nonsense 1/5 -
9-72132048-C-T APBA1 c.79G>A p.Ala27Thr Missense 2/13 -
9-71650726-GCC-TAA FXN c.28_30delGCCinsTAA p.Ala10* Nonsense 1/5 -
17-79479295-GC-CG ACTG1 c.85_86delGCinsCG p.Ala29Arg Missense 2/6 -
17-79479295-GC-CA ACTG1 c.85_86delGCinsCA p.Ala29His Missense 2/6 -
17-79479295-GC-CT ACTG1 c.85_86delGCinsCT p.Ala29Leu Missense 2/6 -
12-133263869-CGC-AAC POLE c.31_33delGCGinsAAC p.Ala11Asn Missense 1/49 -
9-72132080-G-C APBA1 c.47C>G p.Ala16Gly Missense 2/13 -
9-72132080-G-T APBA1 c.47C>A p.Ala16Glu Missense 2/13 -
12-133263846-GC-CA POLE c.55_56delGCinsCA p.Ala19His Missense 1/49 -
9-72132077-GC-TA APBA1 c.49_50delGCinsTA p.Ala17* Nonsense 2/13 -
17-79479294-GGC-ATG ACTG1 c.85_87delGCCinsATG p.Ala29Met Missense 2/6 -
12-133257235-TGC-TGG POLE c.241_243delGCAinsTGG p.Ala81Trp Missense 3/49 -
9-71650726-GCC-CAA FXN c.28_30delGCCinsCAA p.Ala10Gln Missense 1/5 -
17-79479303-AGC-TAA ACTG1 c.76_78delGCTinsTAA p.Ala26* Nonsense 2/6 -
9-71650726-GC-CG FXN c.28_29delGCinsCG p.Ala10Arg Missense 1/5 -
17-79479294-G-T ACTG1 c.87C>A p.Ala29Ala Synonymous 2/6 -
17-79479294-G-A ACTG1 c.87C>T p.Ala29Ala Synonymous 2/6 -
17-79479294-G-C ACTG1 c.87C>G p.Ala29Ala Synonymous 2/6 -
17-79479303-A-T ACTG1 c.78T>A p.Ala26Ala Synonymous 2/6 -
9-72131900-GC-TA APBA1 c.226_227delGCinsTA p.Ala76* Nonsense 2/13 -
9-72131900-GC-TG APBA1 c.226_227delGCinsTG p.Ala76Trp Missense 2/13 -
12-133257236-GC-AG POLE c.241_242delGCinsAG p.Ala81Arg Missense 3/49 -
12-133256804-GC-AT POLE c.289_290delGCinsAT p.Ala97Ile Missense 4/49 -
9-72131900-GC-CT APBA1 c.226_227delGCinsCT p.Ala76Leu Missense 2/13 -
12-133263846-GC-TT POLE c.55_56delGCinsTT p.Ala19Phe Missense 1/49 -
X-153847353-GGC-AAG CTAG1B c.115_117delGCCinsAAG p.Ala39Lys Missense 1/3 -
X-153847355-C-T CTAG1B c.115G>A p.Ala39Thr Missense 1/3 -
X-153847355-C-G CTAG1B c.115G>C p.Ala39Pro Missense 1/3 -
X-153847231-GC-AA CTAG1B c.238_239delGCinsAA p.Ala80Asn Missense 1/3 -
16-29675098-GCT-ATG SPN c.49_51delGCTinsATG p.Ala17Met Missense 2/2 -
X-153847320-TGC-TAT CTAG1B c.148_150delGCAinsTAT p.Ala50Tyr Missense 1/3 -
12-133257236-GC-AA POLE c.241_242delGCinsAA p.Ala81Lys Missense 3/49 -
1-27720489-G-A GPR3 c.187G>A p.Ala63Thr Missense 2/2 -
X-153847354-GC-CT CTAG1B c.115_116delGCinsCT p.Ala39Leu Missense 1/3 -
1-27720477-G-A GPR3 c.175G>A p.Ala59Thr Missense 2/2 -
12-133257236-G-T POLE c.242C>A p.Ala81Glu Missense 3/49 -
9-72132047-GC-CT APBA1 c.79_80delGCinsCT p.Ala27Leu Missense 2/13 -
9-72132047-GC-CA APBA1 c.79_80delGCinsCA p.Ala27His Missense 2/13 -
1-27720520-C-A GPR3 c.218C>A p.Ala73Asp Missense 2/2 -
16-29675098-GCT-CAA SPN c.49_51delGCTinsCAA p.Ala17Gln Missense 2/2 -
X-153847353-GGC-TGG CTAG1B c.115_117delGCCinsTGG p.Ala39Trp Missense 1/3 -
1-168549408-GCA-ATG XCL1 c.169_171delGCAinsATG p.Ala57Met Missense 2/3 -
7-30544195-GC-AA GGCT c.130_131delGCinsAA p.Ala44Asn Missense 1/4 -
9-71650726-GCC-TGG FXN c.28_30delGCCinsTGG p.Ala10Trp Missense 1/5 -
X-153847321-GC-CT CTAG1B c.148_149delGCinsCT p.Ala50Leu Missense 1/3 -
17-79479315-AGC-CAA ACTG1 c.64_66delGCTinsCAA p.Ala22Gln Missense 2/6 -
1-27720478-C-A GPR3 c.176C>A p.Ala59Glu Missense 2/2 -
17-79479294-GGC-TAA ACTG1 c.85_87delGCCinsTAA p.Ala29* Nonsense 2/6 -
16-29675098-GC-CG SPN c.49_50delGCinsCG p.Ala17Arg Missense 2/2 -
1-27720478-C-T GPR3 c.176C>T p.Ala59Val Missense 2/2 -
X-153847317-TG-AC CTAG1B c.152_153delCAinsAC p.Ala51Asp Missense 1/3 -
6-10529179-C-G GCNT2 c.35C>G p.Ala12Gly Missense 3/5 -
1-168549409-C-G XCL1 c.170C>G p.Ala57Gly Missense 2/3 -
X-153847263-AGC-CAA CTAG1B c.205_207delGCTinsCAA p.Ala69Gln Missense 1/3 -
3-75790862-G-A ZNF717 c.83C>T p.Ala28Val Missense 3/5 -
3-75790862-G-C ZNF717 c.83C>G p.Ala28Gly Missense 3/5 -
1-229568792-GC-CG ACTA1 c.70_71delGCinsCG p.Ala24Arg Missense 2/7 -
9-72132047-G-T APBA1 c.80C>A p.Ala27Asp Missense 2/13 -
12-133263847-C-G POLE c.55G>C p.Ala19Pro Missense 1/49 -
1-27720519-GC-TG GPR3 c.217_218delGCinsTG p.Ala73Cys Missense 2/2 -
1-168550321-GCT-TGG XCL1 c.208_210delGCTinsTGG p.Ala70Trp Missense 3/3 -
X-153847231-GC-CT CTAG1B c.238_239delGCinsCT p.Ala80Leu Missense 1/3 -
6-10529178-GCG-CAT GCNT2 c.34_36delGCGinsCAT p.Ala12His Missense 3/5 -
3-75790819-AGC-AAG ZNF717 c.124_126delGCTinsAAG p.Ala42Lys Missense 3/5 -
1-168550321-GC-CG XCL1 c.208_209delGCinsCG p.Ala70Arg Missense 3/3 -
16-29675099-C-A SPN c.50C>A p.Ala17Asp Missense 2/2 -
9-72131900-GC-AG APBA1 c.226_227delGCinsAG p.Ala76Arg Missense 2/13 -
1-27720519-GC-TT GPR3 c.217_218delGCinsTT p.Ala73Phe Missense 2/2 -
17-79479317-C-G ACTG1 c.64G>C p.Ala22Pro Missense 2/6 -
1-168550333-GCC-CAA XCL1 c.220_222delGCCinsCAA p.Ala74Gln Missense 3/3 -
12-133257854-GC-CG POLE c.73_74delGCinsCG p.Ala25Arg Missense 2/49 -
12-133257235-TGC-ATG POLE c.241_243delGCAinsATG p.Ala81Met Missense 3/49 -
X-153847354-GC-AA CTAG1B c.115_116delGCinsAA p.Ala39Asn Missense 1/3 -
X-153847354-GC-AT CTAG1B c.115_116delGCinsAT p.Ala39Ile Missense 1/3 -
X-153847268-C-T CTAG1B c.202G>A p.Ala68Thr Missense 1/3 -
12-133263869-CGC-CAT POLE c.31_33delGCGinsCAT p.Ala11His Missense 1/49 -
16-29675098-GCT-AAG SPN c.49_51delGCTinsAAG p.Ala17Lys Missense 2/2 -
16-29675098-GC-TT SPN c.49_50delGCinsTT p.Ala17Phe Missense 2/2 -
12-133263845-GGC-ATG POLE c.55_57delGCCinsATG p.Ala19Met Missense 1/49 -
17-79479295-G-A ACTG1 c.86C>T p.Ala29Val Missense 2/6 -
17-79479295-G-T ACTG1 c.86C>A p.Ala29Asp Missense 2/6 -
17-79479295-G-C ACTG1 c.86C>G p.Ala29Gly Missense 2/6 -
9-72132047-GC-AT APBA1 c.79_80delGCinsAT p.Ala27Ile Missense 2/13 -
9-72132047-GC-AA APBA1 c.79_80delGCinsAA p.Ala27Asn Missense 2/13 -
9-72132080-GC-TA APBA1 c.46_47delGCinsTA p.Ala16* Nonsense 2/13 -
7-30544195-GC-CG GGCT c.130_131delGCinsCG p.Ala44Arg Missense 1/4 -
1-27720477-GC-TA GPR3 c.175_176delGCinsTA p.Ala59* Nonsense 2/2 -
X-153847355-C-A CTAG1B c.115G>T p.Ala39Ser Missense 1/3 -
7-30544195-GC-CA GGCT c.130_131delGCinsCA p.Ala44His Missense 1/4 -
X-153847321-GC-AT CTAG1B c.148_149delGCinsAT p.Ala50Ile Missense 1/3 -
X-153847354-GC-TA CTAG1B c.115_116delGCinsTA p.Ala39Tyr Missense 1/3 -
3-75790472-C-T ZNF717 c.232G>A p.Ala78Thr Missense 4/5 -
6-10529178-GCG-AAC GCNT2 c.34_36delGCGinsAAC p.Ala12Asn Missense 3/5 -
16-29675098-GC-AA SPN c.49_50delGCinsAA p.Ala17Asn Missense 2/2 -
12-133257235-TGC-AAC POLE c.241_243delGCAinsAAC p.Ala81Asn Missense 3/49 -
12-133257854-GC-TT POLE c.73_74delGCinsTT p.Ala25Phe Missense 2/49 -
12-133257854-GC-TA POLE c.73_74delGCinsTA p.Ala25Tyr Missense 2/49 -
12-133257854-GC-TG POLE c.73_74delGCinsTG p.Ala25Cys Missense 2/49 -
X-153847353-GGC-ATG CTAG1B c.115_117delGCCinsATG p.Ala39Met Missense 1/3 -
X-153847266-CGC-TGT CTAG1B c.202_204delGCGinsTGT p.Ala68Cys Missense 1/3 -
X-153847264-GC-CA CTAG1B c.205_206delGCinsCA p.Ala69His Missense 1/3 -
X-153847264-GC-CT CTAG1B c.205_206delGCinsCT p.Ala69Leu Missense 1/3 -
17-79479303-A-G ACTG1 c.78T>C p.Ala26Ala Synonymous 2/6 -
1-229568792-GC-AA ACTA1 c.70_71delGCinsAA p.Ala24Asn Missense 2/7 -
1-168550333-GCC-AAG XCL1 c.220_222delGCCinsAAG p.Ala74Lys Missense 3/3 -
6-10529280-GCA-TTT GCNT2 c.136_138delGCAinsTTT p.Ala46Phe Missense 3/5 -
17-79479315-AGC-AAG ACTG1 c.64_66delGCTinsAAG p.Ala22Lys Missense 2/6 -
12-133263859-C-T POLE c.43G>A p.Ala15Thr Missense 1/49 -
12-133263859-C-G POLE c.43G>C p.Ala15Pro Missense 1/49 -
12-133263859-C-A POLE c.43G>T p.Ala15Ser Missense 1/49 -
17-79479315-A-G ACTG1 c.66T>C p.Ala22Ala Synonymous 2/6 -
12-133256804-GC-CA POLE c.289_290delGCinsCA p.Ala97His Missense 4/49 -
X-153847266-CGC-CAT CTAG1B c.202_204delGCGinsCAT p.Ala68His Missense 1/3 -
1-168550321-GCT-TAA XCL1 c.208_210delGCTinsTAA p.Ala70* Nonsense 3/3 -
9-71650738-GC-CA FXN c.40_41delGCinsCA p.Ala14Gln Missense 1/5 -
12-133257854-GC-AT POLE c.73_74delGCinsAT p.Ala25Ile Missense 2/49 -
3-75790820-GC-TA ZNF717 c.124_125delGCinsTA p.Ala42Tyr Missense 3/5 -
9-72132079-CGC-TAT APBA1 c.46_48delGCGinsTAT p.Ala16Tyr Missense 2/13 -
X-153847317-TGC-AAC CTAG1B c.151_153delGCAinsAAC p.Ala51Asn Missense 1/3 -
7-30544196-C-G GGCT c.130G>C p.Ala44Pro Missense 1/4 -
6-10529178-GCG-TTT GCNT2 c.34_36delGCGinsTTT p.Ala12Phe Missense 3/5 -
9-71650840-GC-CT FXN c.142_143delGCinsCT p.Ala48Leu Missense 1/5 -
17-79479304-GC-TG ACTG1 c.76_77delGCinsTG p.Ala26Cys Missense 2/6 -
1-229568792-G-T ACTA1 c.71C>A p.Ala24Asp Missense 2/7 -
6-10529335-C-T GCNT2 c.191C>T p.Ala64Val Missense 3/5 -
9-72131899-CGC-TAT APBA1 c.226_228delGCGinsTAT p.Ala76Tyr Missense 2/13 -
9-72132079-CGC-AAC APBA1 c.46_48delGCGinsAAC p.Ala16Asn Missense 2/13 -
12-133263845-GGC-TGG POLE c.55_57delGCCinsTGG p.Ala19Trp Missense 1/49 -
X-153847321-G-T CTAG1B c.149C>A p.Ala50Glu Missense 1/3 -
X-153847321-G-C CTAG1B c.149C>G p.Ala50Gly Missense 1/3 -
17-79479315-A-T ACTG1 c.66T>A p.Ala22Ala Synonymous 2/6 -
17-79479315-A-C ACTG1 c.66T>G p.Ala22Ala Synonymous 2/6 -
1-229568791-GGC-CAA ACTA1 c.70_72delGCCinsCAA p.Ala24Gln Missense 2/7 -
X-153847264-GC-AT CTAG1B c.205_206delGCinsAT p.Ala69Ile Missense 1/3 -
3-75790862-GC-TT ZNF717 c.82_83delGCinsTT p.Ala28Phe Missense 3/5 -
12-133263845-GGC-AAG POLE c.55_57delGCCinsAAG p.Ala19Lys Missense 1/49 -
3-75790862-GC-CG ZNF717 c.82_83delGCinsCG p.Ala28Arg Missense 3/5 -
3-75790862-GC-CA ZNF717 c.82_83delGCinsCA p.Ala28His Missense 3/5 -
3-75790821-C-T ZNF717 c.124G>A p.Ala42Thr Missense 3/5 -
16-29675116-GC-AG SPN c.67_68delGCinsAG p.Ala23Arg Missense 2/2 -
1-229568792-GC-TG ACTA1 c.70_71delGCinsTG p.Ala24Cys Missense 2/7 -
12-133263870-GC-TA POLE c.31_32delGCinsTA p.Ala11* Nonsense 1/49 -
12-133263870-GC-TG POLE c.31_32delGCinsTG p.Ala11Trp Missense 1/49 -
9-71650840-GCG-TTT FXN c.142_144delGCGinsTTT p.Ala48Phe Missense 1/5 -
17-79479294-GG-AG ACTG1 c.86_87delCCinsAG p.Ala29Glu Missense 2/6 -
1-27720521-C-T GPR3 c.219C>T p.Ala73Ala Synonymous 2/2 -
X-153847317-TGC-TAT CTAG1B c.151_153delGCAinsTAT p.Ala51Tyr Missense 1/3 -
1-27720477-GCG-TTT GPR3 c.175_177delGCGinsTTT p.Ala59Phe Missense 2/2 -
1-27720519-G-T GPR3 c.217G>T p.Ala73Ser Missense 2/2 -
9-71650738-GCG-AAC FXN c.40_42delGCGinsAAC p.Ala14Asn Missense 1/5 -
16-89371644-C-A ANKRD11 c.196G>T p.Ala66Ser Missense 4/13 -
16-89371644-C-T ANKRD11 c.196G>A p.Ala66Thr Missense 4/13 -
6-10529281-CA-AC GCNT2 c.137_138delCAinsAC p.Ala46Asp Missense 3/5 -
16-29675098-G-T SPN c.49G>T p.Ala17Ser Missense 2/2 -
16-29675098-G-A SPN c.49G>A p.Ala17Thr Missense 2/2 -
12-133257853-G-T POLE c.75C>A p.Ala25Ala Synonymous 2/49 -
12-133263858-G-C POLE c.44C>G p.Ala15Gly Missense 1/49 -
12-133263846-GC-TG POLE c.55_56delGCinsTG p.Ala19Cys Missense 1/49 -
17-79479316-GC-CA ACTG1 c.64_65delGCinsCA p.Ala22His Missense 2/6 -
6-10529178-GC-AT GCNT2 c.34_35delGCinsAT p.Ala12Met Missense 3/5 -
12-133263857-CGC-TTT POLE c.43_45delGCGinsTTT p.Ala15Phe Missense 1/49 -
X-153847319-C-T CTAG1B c.151G>A p.Ala51Thr Missense 1/3 -
12-133257235-T-G POLE c.243A>C p.Ala81Ala Synonymous 3/49 -
12-133263857-C-T POLE c.45G>A p.Ala15Ala Synonymous 1/49 -
12-133263857-C-A POLE c.45G>T p.Ala15Ala Synonymous 1/49 -
12-133263857-C-G POLE c.45G>C p.Ala15Ala Synonymous 1/49 -
7-30544194-G-C GGCT c.132C>G p.Ala44Ala Synonymous 1/4 -
17-79479315-AGC-ATG ACTG1 c.64_66delGCTinsATG p.Ala22Met Missense 2/6 -
6-10529178-GC-AA GCNT2 c.34_35delGCinsAA p.Ala12Lys Missense 3/5 -
9-72132047-G-A APBA1 c.80C>T p.Ala27Val Missense 2/13 -
9-72132047-G-C APBA1 c.80C>G p.Ala27Gly Missense 2/13 -
3-75790863-C-A ZNF717 c.82G>T p.Ala28Ser Missense 3/5 -
12-133257235-T-A POLE c.243A>T p.Ala81Ala Synonymous 3/49 -
12-133257235-T-C POLE c.243A>G p.Ala81Ala Synonymous 3/49 -
12-133263858-G-A POLE c.44C>T p.Ala15Val Missense 1/49 -
X-153847266-C-T CTAG1B c.204G>A p.Ala68Ala Synonymous 1/3 -
X-153847266-C-G CTAG1B c.204G>C p.Ala68Ala Synonymous 1/3 -
X-153847266-C-A CTAG1B c.204G>T p.Ala68Ala Synonymous 1/3 -
12-133263845-G-C POLE c.57C>G p.Ala19Ala Synonymous 1/49 -
6-10529334-GC-CA GCNT2 c.190_191delGCinsCA p.Ala64Gln Missense 3/5 -
12-133263845-G-T POLE c.57C>A p.Ala19Ala Synonymous 1/49 -
9-72131852-GC-CG APBA1 c.274_275delGCinsCG p.Ala92Arg Missense 2/13 -
1-229568791-GGC-AAG ACTA1 c.70_72delGCCinsAAG p.Ala24Lys Missense 2/7 -
12-133257853-GGC-AAG POLE c.73_75delGCCinsAAG p.Ala25Lys Missense 2/49 -
17-79479294-GGC-TGG ACTG1 c.85_87delGCCinsTGG p.Ala29Trp Missense 2/6 -
1-27720315-GCA-TGT GPR3 c.13_15delGCAinsTGT p.Ala5Cys Missense 2/2 -
16-89371643-GC-CA ANKRD11 c.196_197delGCinsCA p.Ala66His Missense 4/13 -
3-75790861-AGC-ATG ZNF717 c.82_84delGCTinsATG p.Ala28Met Missense 3/5 -
1-27720521-C-A GPR3 c.219C>A p.Ala73Ala Synonymous 2/2 -
3-75790861-AGC-TAA ZNF717 c.82_84delGCTinsTAA p.Ala28* Nonsense 3/5 -
X-153847354-GC-CG CTAG1B c.115_116delGCinsCG p.Ala39Arg Missense 1/3 -
12-133263869-CGC-ATC POLE c.31_33delGCGinsATC p.Ala11Ile Missense 1/49 -
12-133263845-GGC-CAA POLE c.55_57delGCCinsCAA p.Ala19Gln Missense 1/49 -
3-75790861-AGC-CAA ZNF717 c.82_84delGCTinsCAA p.Ala28Gln Missense 3/5 -
1-229568792-G-A ACTA1 c.71C>T p.Ala24Val Missense 2/7 -
16-89371643-GC-TT ANKRD11 c.196_197delGCinsTT p.Ala66Phe Missense 4/13 -
16-89371643-GC-TA ANKRD11 c.196_197delGCinsTA p.Ala66Tyr Missense 4/13 -
X-153847317-TGC-CAT CTAG1B c.151_153delGCAinsCAT p.Ala51His Missense 1/3 -
17-79479316-G-T ACTG1 c.65C>A p.Ala22Asp Missense 2/6 -
9-71650840-G-C FXN c.142G>C p.Ala48Pro Missense 1/5 -
12-133263858-GC-CT POLE c.43_44delGCinsCT p.Ala15Leu Missense 1/49 -