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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 | 2340153 | 2340153 | A > - | PEX10 PEX10 |
NM_002617.3:c.338del NM_153818.1:c.338del |
NP_002608.1:p.Leu113ArgfsTer40 NP_722540.1:p.Leu113ArgfsTer40 |
3/8004 | 0.00019 | 2 | Likely pathogenic | |
| View | 1 | 8420421 | 8420421 | G > A | RERE RERE RERE |
NM_001042682.1:c.1484C>T NM_012102.3:c.3146C>T NM_001042681.1:c.3146C>T |
NP_001036147.1:p.Pro495Leu NP_036234.3:p.Pro1049Leu NP_001036146.1:p.Pro1049Leu |
1/6213 | 8.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 1 | 19570202 | 19570202 | C > T | EMC1 TRNAN-GUU EMC1 EMC1 EMC1 |
NM_001271427.1:c.287-1G>A NM_015047.2:c.287-1G>A NM_001271428.1:c.287-1G>A NM_001271429.1:c.221-1G>A |
1/6213 | 8.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 1 | 21889608 | 21889608 | C > - | TRNAN-GUU ALPL ALPL ALPL |
ENST00000540617.1:c.138del ENST00000539907.1:c.72del ENST00000374840.3:c.303del |
ENSP00000442672.1:p.Tyr46Ter ENSP00000437674.1:p.Tyr24Ter ENSP00000363973.3:p.Tyr101Ter |
2/8004 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 27874024 | 27874024 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.4603G>A |
NP_001025053.1:p.Ala1535Thr |
2/6213 | 0.00016 | 4 | non_synonymous | Likely pathogenic |
| View | 1 | 47745980 | 47745980 | C > A | TRNAN-GUU STIL STIL |
NM_001048166.1:c.2150G>T NM_003035.2:c.2150G>T |
NP_001041631.1:p.Gly717Val NP_003026.2:p.Gly717Val |
4/6213 | 0.00032 | 1 | Likely pathogenic | |
| View | 1 | 63091070 | 63091070 | G > A | TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 DOCK7 |
NM_033407.3:c.1285C>T NM_001272000.1:c.1285C>T NM_001271999.1:c.1285C>T NM_001272001.1:c.1285C>T NM_001272002.1:c.1285C>T |
NP_212132.2:p.Arg429Ter NP_001258929.1:p.Arg429Ter NP_001258928.1:p.Arg429Ter NP_001258930.1:p.Arg429Ter NP_001258931.1:p.Arg429Ter |
1/6213 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 109461364 | 109461364 | C > T | TRNAN-GUU GPSM2 |
NM_013296.4:c.1393C>T |
NP_037428.3:p.Gln465Ter |
2/6213 | 0.00016 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 160105629 | 160105629 | G > C | ATP1A2 |
NM_000702.3:c.2285G>C |
NP_000693.1:p.Gly762Ala |
2/6213 | 0.00016 | 2 | non_synonymous | Likely pathogenic |
| View | 1 | 197104279 | 197104279 | A > T | ASPM ASPM |
NM_018136.4:c.2120T>A NM_001206846.1:c.2120T>A |
NP_060606.3:p.Leu707Ter NP_001193775.1:p.Leu707Ter |
2/6213 | 0.00016 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 211093308 | 211093308 | A > G | KCNH1 KCNH1 |
NM_172362.2:c.1136T>C NM_002238.3:c.1055T>C |
NP_758872.1:p.Leu379Pro NP_002229.1:p.Leu352Pro |
1/6213 | 8.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 1 | 214813306 | 214813306 | A > - | CENPF |
NM_016343.3:c.1630del |
NP_057427.3:p.Ile544Ter |
2/6174 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 1 | 214815852 | 214815852 | G > T | CENPF |
NM_016343.3:c.4171G>T |
NP_057427.3:p.Glu1391Ter |
4/6174 | 0.00032 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 228345476 | 228345476 | G > A | GJC2 |
NM_020435.3:c.17G>A |
NP_065168.2:p.Trp6Ter |
2/8004 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 73767841 | 73767841 | C > T | CHST3 |
NM_004273.4:c.1052C>T |
NP_004264.2:p.Ser351Phe |
3/6435 | 0.00031 | 2 | non_synonymous | Likely pathogenic |
| View | 10 | 76781789 | 76781789 | C > T | KAT6B KAT6B KAT6B |
NM_001256468.1:c.2623C>T NM_001256469.1:c.2296C>T NM_012330.3:c.3172C>T |
NP_001243397.1:p.Arg875Ter NP_001243398.1:p.Arg766Ter NP_036462.2:p.Arg1058Ter |
1/6213 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 79761985 | 79761991 | GGCTGTT > - | POLR3A |
NM_007055.3:c.2323_2329del |
NP_008986.2:p.Asn775ProfsTer19 |
1/6213 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 10 | 102506065 | 102506065 | G > T | PAX2 PAX2 PAX2 |
ENST00000428433.1:c.43+5G>T ENST00000355243.3:c.43+5G>T NM_003988.3:c.43+5G>T |
5/6213 | 0.0004 | 2 | five_prime_flank | Likely pathogenic | |
| View | 10 | 135180494 | 135180494 | G > A | ECHS1 |
NM_004092.3:c.518C>T |
NP_004083.3:p.Ala173Val |
8/6213 | 0.0008 | 2 | non_synonymous | Likely pathogenic |
| View | 11 | 36596859 | 36596859 | G > A | RAG1 |
ENST00000299440.5:c.2005G>A |
ENSP00000299440.5:p.Glu669Lys |
1/8004 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 11 | 61160688 | 61160702 | GTGCTCCTTTTTCAG > - | TMEM216 TMEM216 TMEM216 |
NM_016499.5:c.-149-13_-148del NM_001173991.2:c.35-13_36del NM_001173990.2:c.35-13_36del |
3/6213 | 0.00024 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 65318944 | 65318944 | G > A | LTBP3 LTBP3 LTBP3 |
NM_001130144.2:c.1550C>T NM_021070.4:c.1550C>T NM_001164266.1:c.1199C>T |
NP_001123616.1:p.Pro517Leu NP_066548.2:p.Pro517Leu NP_001157738.1:p.Pro400Leu |
2/6213 | 0.00016 | 2 | non_synonymous | Likely pathogenic |
| View | 11 | 76924904 | 76924904 | G > A | MYO7A MYO7A |
NM_000260.3:c.6439-1G>A NM_001127180.1:c.6319-1G>A |
1/8004 | 6.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 86017286 | 86017286 | G > T | HIKESHI HIKESHI HIKESHI HIKESHI |
NR_024598.1:n.268+3766G>T NM_016401.3:c.31-1G>T NR_024597.1:n.268+3766G>T NR_024596.1:n.106-1G>T |
1/6174 | 8.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 11 | 110134684 | 110134684 | C > T | RDX RDX RDX RDX RDX RDX |
NM_001260492.1:c.467+1G>A NM_001260496.1:c.371+1G>A NM_001260493.1:c.467+1G>A NM_001260494.1:c.60-5770G>A NM_002906.3:c.467+1G>A NM_001260495.1:c.-83+15722G>A |
2/6213 | 0.00016 | 2 | donor_site | Likely pathogenic | |
| View | 11 | 118374265 | 118374266 | - > A | KMT2A KMT2A |
NM_001197104.1:c.7659dupA NM_005933.3:c.7650dupA |
NP_001184033.1:p.Glu2554ArgfsTer13 NP_005924.2:p.Glu2551ArgfsTer13 |
1/6213 | 8.0e-05 | 1 | frameshift | Likely pathogenic |
| View | 11 | 119216266 | 119216266 | G > - | MFRP C1QTNF5 |
NM_031433.3:c.505del NM_015645.4:c.-2132del |
NP_113621.1:p.His169ThrfsTer23 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 12 | 4385250 | 4385250 | C > T | CCND2 |
NM_001759.3:c.275C>T |
NP_001750.1:p.Pro92Leu |
1/6213 | 8.0e-05 | 2 | non_synonymous | Likely pathogenic |
| View | 12 | 49449106 | 49449106 | A > G | KMT2D |
NM_003482.3:c.2T>C |
NP_003473.3:p.Met1? |
2/6213 | 0.00016 | 2 | loss_of_initiation | Likely pathogenic |
| View | 12 | 52184263 | 52184263 | C > A | SCN8A SCN8A |
NM_014191.3:c.4501C>A NM_001177984.2:c.4378C>A |
NP_055006.1:p.Gln1501Lys NP_001171455.1:p.Gln1460Lys |
1/6213 | 8.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 12 | 116435014 | 116435014 | A > T | MED13L |
NM_015335.4:c.2591T>A |
NP_056150.1:p.Met864Lys |
1/6213 | 8.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 12 | 120241182 | 120241183 | - > G | CIT CIT |
NM_007174.2:c.1122dupC NM_001206999.1:c.1122dupC |
NP_009105.1:p.Phe375LeufsTer8 NP_001193928.1:p.Phe375LeufsTer8 |
2/6174 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 12 | 120876244 | 120876244 | A > - | COX6A1 |
NM_004373.3:c.167del |
NP_004364.2:p.Asn56MetfsTer4 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 13 | 20763634 | 20763636 | GAA > - | GJB2 |
NM_004004.5:c.85_87del |
NP_003995.2:p.Phe29del |
1/8004 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 13 | 20797557 | 20797557 | C > - | GJB6 GJB6 GJB6 GJB6 |
NM_001110221.2:c.63del NM_006783.4:c.63del NM_001110219.2:c.63del NM_001110220.2:c.63del |
NP_001103691.1:p.Lys22ArgfsTer13 NP_006774.2:p.Lys22ArgfsTer13 NP_001103689.1:p.Lys22ArgfsTer13 NP_001103690.1:p.Lys22ArgfsTer13 |
8/6213 | 0.00064 | 1 | Likely pathogenic | |
| View | 13 | 37583420 | 37583420 | G > C | EXOSC8 |
NM_181503.2:c.815G>C |
NP_852480.1:p.Ser272Thr |
65/6213 | 0.00523 | 1 | Likely pathogenic | |
| View | 13 | 52548491 | 52548491 | G > A | ATP7B ATP7B ATP7B |
NM_001243182.1:c.802+63C>T NM_001005918.2:c.865C>T NM_000053.3:c.865C>T |
NP_001005918.1:p.Gln289Ter NP_000044.2:p.Gln289Ter |
1/8223 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 13 | 100953719 | 100953719 | G > T | PCCA PCCA PCCA |
NM_000282.3:c.1071G>T NM_001127692.2:c.993G>T NM_001178004.1:c.1071G>T |
NP_000273.2:p.Glu357Asp NP_001121164.1:p.Glu331Asp NP_001171475.1:p.Glu357Asp |
1/8004 | 0.00012 | 1 | non_synonymous found likely homozygous in a patient with clinical biochemical dx of PA | Likely pathogenic |
| View | 14 | 20944591 | 20944591 | G > C | PNP |
NM_000270.3:c.701G>C |
NP_000261.2:p.Arg234Pro |
2/6213 | 0.00016 | 1 | Likely pathogenic | |
| View | 14 | 23894999 | 23894999 | G > T | MYH7 |
NM_000257.2:c.2191C>A |
NP_000248.2:p.Pro731Thr |
1/6213 | 8.0e-05 | 1 | Likely pathogenic | |
| View | 14 | 58895075 | 58895076 | - > C | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.94dupC NM_001244191.1:c.-57+721dupC NM_001244190.1:c.49dupC NM_001244192.1:c.-57+721dupC NM_001244189.1:c.130dupC |
NP_055564.3:p.His32ProfsTer8 NP_001231119.1:p.His17ProfsTer8 NP_001231118.1:p.His44ProfsTer8 |
3/6174 | 0.00024 | 1 | Likely pathogenic | |
| View | 14 | 68234545 | 68234554 | GAGCTGTCTA > - | ZFYVE26 |
ENST00000347230.4:c.5657_5666del |
ENSP00000251119.5:p.Leu1886ProfsTer12 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 14 | 74531982 | 74531982 | G > - | ALDH6A1 BBOF1 ALDH6A1 ALDH6A1 |
NM_001278594.1:c.844del NM_025057.2:c.*581del NM_005589.3:c.1306del NM_001278593.1:c.1267del |
NP_001265523.1:p.Gln282ArgfsTer3 NP_005580.1:p.Gln436ArgfsTer3 NP_001265522.1:p.Gln423ArgfsTer3 |
2/6435 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 14 | 88407758 | 88407759 | - > T | GALC GALC |
ENST00000393569.2:c.1736dupA ENST00000261304.2:c.1814dupA |
ENSP00000377199.2:p.Tyr579Ter ENSP00000261304.2:p.Tyr605Ter |
2/8004 | 0.00012 | 2 | premature_stop | Likely pathogenic |
| View | 15 | 40917591 | 40917592 | - > T | KNL1 KNL1 |
NM_144508.4:c.5130dupT NM_170589.4:c.5208dupT |
NP_653091.3:p.Ile1711TyrfsTer3 NP_733468.3:p.Ile1737TyrfsTer3 |
2/6213 | 0.00016 | 2 | frameshift | Likely pathogenic |
| View | 15 | 57526310 | 57526310 | G > A | TCF12 TCF12 TCF12 TCF12 TCF12 |
NM_207037.1:c.1035+5G>A NM_207036.1:c.1035+5G>A NM_207040.1:c.525+5G>A NM_003205.3:c.1035+5G>A NM_207038.1:c.1035+5G>A |
1/6213 | 8.0e-05 | 2 | five_prime_flank | Likely pathogenic | |
| View | 15 | 72978570 | 72978570 | T > C | BBS4 BBS4 BBS4 |
NR_045566.1:n.51T>C NR_045565.1:n.51T>C ENST00000268057.4:c.2T>C |
ENSP00000268057.4:p.Met1? |
2/6213 | 0.00016 | 2 | loss_of_initiation | Likely pathogenic |
| View | 15 | 89872286 | 89872286 | A > C | POLG POLG |
NM_002693.2:c.911T>G NM_001126131.1:c.911T>G |
NP_002684.1:p.Leu304Arg NP_001119603.1:p.Leu304Arg |
1/8004 | 6.0e-05 | 1 | Likely pathogenic | |
| View | 15 | 91550240 | 91550240 | C > A | VPS33B |
NM_018668.3:c.640G>T |
NP_061138.3:p.Glu214Ter |
1/8004 | 6.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 15 | 101120526 | 101120526 | A > - | LINS1 |
ENST00000314742.8:c.431del |
ENSP00000318423.8:p.Leu144TyrfsTer17 |
3/6213 | 0.00024 | 2 | frameshift | Likely pathogenic |