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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 1 | 3319504 | 3319504 | G > - | PRDM16 PRDM16 |
NM_199454.2:c.827del NM_022114.3:c.827del |
NP_955533.2:p.Gly276AlafsTer68 NP_071397.3:p.Gly276AlafsTer68 |
2/6955 | 0.00014 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 1 | 9787030 | 9787030 | G > A | PIK3CD |
NM_005026.3:c.3061G>A |
NP_005017.3:p.Glu1021Lys |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 1 | 11217230 | 11217230 | C > A | MTOR |
NM_004958.3:c.4448G>T |
NP_004949.1:p.Cys1483Phe |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 1 | 12058874 | 12058874 | T > C | MFN2 MFN2 |
NM_001127660.1:c.647T>C NM_014874.3:c.647T>C |
NP_001121132.1:p.Phe216Ser NP_055689.1:p.Phe216Ser |
4/6955 | 0.00029 | 1 | Pathogenic | |
| View | 1 | 16380203 | 16380203 | G > - | CLCNKB CLCNKB |
NM_001165945.2:c.1186del NM_000085.4:c.1693del |
NP_001159417.2:p.Glu396ArgfsTer7 NP_000076.2:p.Glu565ArgfsTer7 |
2/6955 | 0.00022 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 1 | 21889651 | 21889651 | G > A | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.346G>A ENST00000539907.1:c.115G>A ENST00000540617.1:c.181G>A |
ENSP00000363973.3:p.Ala116Thr ENSP00000437674.1:p.Ala39Thr ENSP00000442672.1:p.Ala61Thr |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 1 | 21890632 | 21890632 | G > A | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.571G>A ENST00000539907.1:c.340G>A ENST00000540617.1:c.406G>A |
ENSP00000363973.3:p.Glu191Lys ENSP00000437674.1:p.Glu114Lys ENSP00000442672.1:p.Glu136Lys |
14/8745 | 0.0008 | 1 | Pathogenic | |
| View | 1 | 21890681 | 21890681 | A > C | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.620A>C ENST00000539907.1:c.389A>C ENST00000540617.1:c.455A>C |
ENSP00000363973.3:p.Gln207Pro ENSP00000437674.1:p.Gln130Pro ENSP00000442672.1:p.Gln152Pro |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 1 | 21900176 | 21900176 | A > C | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.881A>C ENST00000539907.1:c.650A>C ENST00000540617.1:c.716A>C |
ENSP00000363973.3:p.Asp294Ala ENSP00000437674.1:p.Asp217Ala ENSP00000442672.1:p.Asp239Ala |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 1 | 21902229 | 21902229 | G > A | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.1001G>A ENST00000539907.1:c.770G>A ENST00000540617.1:c.836G>A |
ENSP00000363973.3:p.Gly334Asp ENSP00000437674.1:p.Gly257Asp ENSP00000442672.1:p.Gly279Asp |
3/8745 | 0.00017 | 1 | Pathogenic | |
| View | 1 | 21902361 | 21902361 | A > T | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.1133A>T ENST00000539907.1:c.902A>T ENST00000540617.1:c.968A>T |
ENSP00000363973.3:p.Asp378Val ENSP00000437674.1:p.Asp301Val ENSP00000442672.1:p.Asp323Val |
4/8745 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 27056211 | 27056211 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.1207C>T NM_006015.4:c.1207C>T |
NP_624361.1:p.Gln403Ter NP_006006.3:p.Gln403Ter |
2/6955 | 0.00014 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 1 | 27875965 | 27875986 | del > - | TRNAN-GUU AHDC1 |
NM_001029882.2:c.2641_2662del |
NP_001025053.1:p.Ala881SerfsTer44 |
1/6955 | 7.0e-05 | 1 | frameshift | Pathogenic |
| View | 1 | 40542587 | 40542587 | T > A | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.418-2A>T NM_000310.3:c.727-2A>T |
5/8745 | 0.00029 | 1 | Pathogenic | ||
| View | 1 | 40555167 | 40555167 | G > A | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.142C>T NM_000310.3:c.451C>T |
NP_001136076.1:p.Arg48Ter NP_000301.1:p.Arg151Ter |
14/8745 | 0.0008 | 1 | Pathogenic | |
| View | 1 | 43221287 | 43221287 | G > A | P3H1 TRNAN-GUU P3H1 P3H1 |
NM_001243246.1:c.1102C>T NM_001146289.1:c.1102C>T ENST00000296388.5:c.1102C>T |
NP_001230175.1:p.Arg368Ter NP_001139761.1:p.Arg368Ter ENSP00000296388.5:p.Arg368Ter |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 1 | 43395556 | 43395556 | G > A | TRNAN-GUU SLC2A1 |
NM_006516.2:c.667C>T |
NP_006507.2:p.Arg223Trp |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 1 | 45973216 | 45973217 | - > A | TRNAN-GUU MMACHC |
NM_015506.2:c.271dupA |
NP_056321.2:p.Arg91LysfsTer14 |
26/8745 | 0.00149 | 1 | Pathogenic | |
| View | 1 | 45974520 | 45974520 | G > A | TRNAN-GUU MMACHC |
NM_015506.2:c.482G>A |
NP_056321.2:p.Arg161Gln |
5/8745 | 0.00029 | 1 | Pathogenic | |
| View | 1 | 46658069 | 46658069 | G > A | TRNAN-GUU POMGNT1 POMGNT1 |
ENST00000371992.1:c.1324C>T ENST00000371984.3:c.1324C>T |
ENSP00000361060.1:p.Arg442Cys ENSP00000361052.3:p.Arg442Cys |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 1 | 47728587 | 47728587 | G > C | STIL TRNAN-GUU STIL |
NM_001048166.1:c.2817C>G NM_003035.2:c.2814C>G |
NP_001041631.1:p.Tyr939Ter NP_003026.2:p.Tyr938Ter |
4/6955 | 0.00029 | 2 | premature_stop | Pathogenic |
| View | 1 | 53668099 | 53668099 | C > T | TRNAN-GUU CPT2 |
NM_000098.2:c.338C>T |
NP_000089.1:p.Ser113Leu |
37/8745 | 0.00212 | 1 | Pathogenic | |
| View | 1 | 53675716 | 53675716 | C > T | TRNAN-GUU CPT2 |
NM_000098.2:c.370C>T |
NP_000089.1:p.Arg124Ter |
4/8745 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 63868019 | 63868019 | G > A | TRNAN-GUU ALG6 |
NM_013339.3:c.257+5G>A |
19/8745 | 0.00114 | 1 | Pathogenic | ||
| View | 1 | 76198337 | 76198337 | G > A | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.127G>A NM_001127328.1:c.139G>A |
NP_000007.1:p.Glu43Lys NP_001120800.1:p.Glu47Lys |
54/8745 | 0.00309 | 1 | Pathogenic | |
| View | 1 | 76211473 | 76211473 | G > A | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.600-18G>A NM_001127328.1:c.612-18G>A |
8/8706 | 0.00046 | 1 | Pathogenic | ||
| View | 1 | 76215129 | 76215129 | C > T | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.734C>T NM_001127328.1:c.746C>T |
NP_000007.1:p.Ser245Leu NP_001120800.1:p.Ser249Leu |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 1 | 76215194 | 76215194 | G > A | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.799G>A NM_001127328.1:c.811G>A |
NP_000007.1:p.Gly267Arg NP_001120800.1:p.Gly271Arg |
6/8745 | 0.00034 | 1 | Pathogenic | |
| View | 1 | 76215245 | 76215245 | G > A | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.849+1G>A NM_001127328.1:c.861+1G>A |
1/8745 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 1 | 76226846 | 76226846 | A > G | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.985A>G NM_001127328.1:c.997A>G |
NP_000007.1:p.Lys329Glu NP_001120800.1:p.Lys333Glu |
112/8745 | 0.00658 | 1 | Pathogenic | |
| View | 1 | 76226906 | 76226906 | C > T | TRNAN-GUU ACADM ACADM |
NM_000016.4:c.1045C>T NM_001127328.1:c.1057C>T |
NP_000007.1:p.Arg349Ter NP_001120800.1:p.Arg353Ter |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 1 | 97915614 | 97915614 | C > T | DPYD TRNAN-GUU |
ENST00000370192.3:c.1905+1G>A |
95/9143 | 0.0052 | 1 | Pathogenic | ||
| View | 1 | 109441560 | 109441560 | C > - | TRNAN-GUU GPSM2 |
NM_013296.4:c.742del |
NP_037428.3:p.Gly249GlufsTer32 |
3/6955 | 0.00022 | 1 | Pathogenic | |
| View | 1 | 109465069 | 109465069 | G > - | TRNAN-GUU GPSM2 |
NM_013296.4:c.1473del |
NP_037428.3:p.Phe492SerfsTer5 |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 1 | 109465090 | 109465090 | C > T | TRNAN-GUU GPSM2 |
NM_013296.4:c.1492C>T |
NP_037428.3:p.Arg498Ter |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 1 | 153790590 | 153790590 | G > A | GATAD2B |
NM_020699.2:c.655C>T |
NP_065750.1:p.Gln219Ter |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 1 | 154145448 | 154145448 | G > A | TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 |
NR_103461.1:n.521C>T NM_001278188.1:c.193C>T NM_001043353.1:c.391C>T NM_001278189.1:c.391C>T NM_001043352.1:c.391C>T NM_153649.3:c.391C>T NM_001043351.1:c.391C>T NM_001278191.1:c.121C>T NM_152263.3:c.502C>T NM_001278190.1:c.391C>T |
NP_001265117.1:p.Arg65Cys NP_001036818.1:p.Arg131Cys NP_001265118.1:p.Arg131Cys NP_001036817.1:p.Arg131Cys NP_705935.1:p.Arg131Cys NP_001036816.1:p.Arg131Cys NP_001265120.1:p.Arg41Cys NP_689476.2:p.Arg168Cys NP_001265119.1:p.Arg131Cys |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 1 | 154574541 | 154574541 | G > C | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.562C>G NM_001025107.2:c.-309C>G ENST00000368474.4:c.577C>G NM_001193495.1:c.-309C>G |
ENSP00000431794.1:p.Pro188Ala ENSP00000357459.4:p.Pro193Ala |
48/6955 | 0.00352 | 1 | Pathogenic | |
| View | 1 | 155261636 | 155261636 | C > T | PKLR PKLR |
NM_181871.3:c.1436G>A NM_000298.5:c.1529G>A |
NP_870986.1:p.Arg479Gln NP_000289.1:p.Arg510Gln |
24/8745 | 0.00137 | 1 | Pathogenic | |
| View | 1 | 156106776 | 156106776 | G > A | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.1109G>A NM_005572.3:c.1445G>A NR_047544.1:n.2086G>A NR_047545.1:n.1333G>A NM_170707.3:c.1445G>A NM_170708.3:c.1445G>A |
NP_001244303.1:p.Arg370Gln NP_005563.1:p.Arg482Gln NP_733821.1:p.Arg482Gln NP_733822.1:p.Arg482Gln |
1/7607 | 7.0e-05 | 1 | Pathogenic | |
| View | 1 | 169519049 | 169519049 | T > C | F5 |
ENST00000367797.3:c.1601A>G |
ENSP00000356771.3:p.Gln534Arg |
6874/6997 | 0.95948 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Pathogenic |
| View | 1 | 197411405 | 197411405 | G > - | CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 |
ENST00000367400.3:c.3988del ENST00000538660.1:c.2380del ENST00000535699.1:c.3916del NR_047563.1:n.3989del ENST00000367399.2:c.3652del NR_047564.1:n.4197del |
ENSP00000356370.3:p.Glu1330SerfsTer11 ENSP00000438091.1:p.Glu794SerfsTer11 ENSP00000438786.1:p.Glu1306SerfsTer11 ENSP00000356369.2:p.Glu1218SerfsTer11 |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 1 | 209961939 | 209961948 | GAAATCACCA > - | IRF6 IRF6 |
NM_001206696.1:c.936_945del NM_006147.3:c.1221_1230del |
NP_001193625.1:p.Gly313HisfsTer26 NP_006138.1:p.Gly408HisfsTer26 |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 1 | 216497582 | 216497582 | C > A | USH2A USH2A |
ENST00000366942.3:c.1256G>T ENST00000307340.3:c.1256G>T |
ENSP00000355909.3:p.Cys419Phe ENSP00000305941.3:p.Cys419Phe |
3/8745 | 0.00017 | 1 | Pathogenic | |
| View | 1 | 235564868 | 235564879 | GGGAGCCACGAA > - | TBCE TBCE |
NM_001079515.1:c.155_166del NM_003193.3:c.155_166del |
NP_001072983.1:p.Ser52_Gly55del NP_003184.1:p.Ser52_Gly55del |
2/8745 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 245026981 | 245026982 | - > C | HNRNPU HNRNPU |
NM_031844.2:c.628dupG NM_004501.3:c.628dupG |
NP_114032.2:p.Ala210GlyfsTer4 NP_004492.2:p.Ala210GlyfsTer14 |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 10 | 14987109 | 14987109 | G > A | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_022487.2:c.-49C>T NM_001033855.1:c.241C>T NM_001033857.1:c.-120C>T NM_001033858.1:c.-442C>T |
NP_001029027.1:p.Arg81Ter |
1/8745 | 0.00011 | 1 | Pathogenic | |
| View | 10 | 43617416 | 43617416 | T > C | RET RET |
ENST00000340058.5:c.2753T>C ENST00000355710.3:c.2753T>C |
ENSP00000344798.4:p.Met918Thr ENSP00000347942.3:p.Met918Thr |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 10 | 50678470 | 50678470 | T > - | ERCC6 |
NM_000124.3:c.3536del |
NP_000115.1:p.Tyr1179LeufsTer22 |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 10 | 50691550 | 50691550 | G > A | ERCC6 |
NM_000124.3:c.1834C>T |
NP_000115.1:p.Arg612Ter |
2/8745 | 0.00011 | 1 | Pathogenic |