Download: Excel
| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 1 | 2236001 | 2236001 | C > T | SKI |
NM_003036.3:c.1744C>T |
NP_003027.1:p.Gln582Ter |
1/13144 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 2340153 | 2340153 | A > - | PEX10 PEX10 |
NM_153818.1:c.338del NM_002617.3:c.338del |
NP_722540.1:p.Leu113ArgfsTer40 NP_002608.1:p.Leu113ArgfsTer40 |
3/14969 | 0.0001 | 2 | curation | Likely pathogenic |
| View | 1 | 3319395 | 3319395 | C > - | PRDM16 PRDM16 |
NM_199454.2:c.718del NM_022114.3:c.718del |
NP_955533.2:p.Gln240SerfsTer104 NP_071397.3:p.Gln240SerfsTer104 |
2/13144 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 8420421 | 8420421 | G > A | RERE RERE RERE |
NM_012102.3:c.3146C>T NM_001042682.1:c.1484C>T NM_001042681.1:c.3146C>T |
NP_036234.3:p.Pro1049Leu NP_001036147.1:p.Pro495Leu NP_001036146.1:p.Pro1049Leu |
1/13144 | 4.0e-05 | 1 | curation | Likely pathogenic |
| View | 1 | 17331945 | 17331945 | C > T | TRNAN-GUU ATP13A2 ATP13A2 ATP13A2 |
NM_001141973.1:c.212G>A NM_001141974.1:c.212G>A NM_022089.2:c.212G>A |
NP_001135445.1:p.Trp71Ter NP_001135446.1:p.Trp71Ter NP_071372.1:p.Trp71Ter |
5/13144 | 0.00019 | 1 | Likely pathogenic | |
| View | 1 | 19570202 | 19570202 | C > T | EMC1 TRNAN-GUU EMC1 EMC1 EMC1 |
NM_015047.2:c.287-1G>A NM_001271427.1:c.287-1G>A NM_001271428.1:c.287-1G>A NM_001271429.1:c.221-1G>A |
1/11983 | 4.0e-05 | 2 | acceptor_site | Likely pathogenic | |
| View | 1 | 21889608 | 21889608 | C > - | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.303del ENST00000539907.1:c.72del ENST00000540617.1:c.138del |
ENSP00000363973.3:p.Tyr101Ter ENSP00000437674.1:p.Tyr24Ter ENSP00000442672.1:p.Tyr46Ter |
2/14969 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 22408239 | 22408239 | G > T | TRNAN-GUU CDC42 CDC42 CDC42 |
NM_001039802.1:c.130G>T NM_044472.2:c.130G>T NM_001791.3:c.130G>T |
NP_001034891.1:p.Val44Phe NP_426359.1:p.Val44Phe NP_001782.1:p.Val44Phe |
2/13144 | 8.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 1 | 23383989 | 23383989 | G > T | TRNAN-GUU KDM1A KDM1A |
NM_015013.3:c.943G>T NM_001009999.2:c.1003G>T |
NP_055828.2:p.Gly315Ter NP_001009999.1:p.Gly335Ter |
1/13144 | 4.0e-05 | 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 |
7/13144 | 0.00027 | 4 | curation | Likely pathogenic |
| View | 1 | 27876868 | 27876868 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1759C>T |
NP_001025053.1:p.Arg587Ter |
1/13144 | 4.0e-05 | 1 | Likely pathogenic | |
| View | 1 | 40318515 | 40318515 | G > A | TRNAN-GUU TRIT1 |
NM_017646.4:c.448C>T |
NP_060116.2:p.Arg150Ter |
2/13144 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 47745980 | 47745980 | C > A | STIL TRNAN-GUU STIL |
NM_001048166.1:c.2150G>T NM_003035.2:c.2150G>T |
NP_001041631.1:p.Gly717Val NP_003026.2:p.Gly717Val |
4/13144 | 0.00015 | 1 | Likely pathogenic | |
| View | 1 | 62979504 | 62979504 | C > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.3909G>A NM_001271999.1:c.4002G>A NM_033407.3:c.3909G>A NM_001272001.1:c.3909G>A |
NP_001258929.1:p.Trp1303Ter NP_001258928.1:p.Trp1334Ter NP_212132.2:p.Trp1303Ter NP_001258930.1:p.Trp1303Ter |
1/13144 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 63091070 | 63091070 | G > A | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1285C>T NM_001271999.1:c.1285C>T NM_033407.3:c.1285C>T NM_001272002.1:c.1285C>T NM_001272001.1:c.1285C>T |
NP_001258929.1:p.Arg429Ter NP_001258928.1:p.Arg429Ter NP_212132.2:p.Arg429Ter NP_001258931.1:p.Arg429Ter NP_001258930.1:p.Arg429Ter |
1/13144 | 4.0e-05 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 1 | 64095162 | 64095162 | A > T | PGM1 TRNAN-GUU PGM1 PGM1 |
NM_001172818.1:c.367A>T NM_002633.2:c.313A>T NM_001172819.1:c.-279A>T |
NP_001166289.1:p.Lys123Ter NP_002624.2:p.Lys105Ter |
2/13144 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 97839117 | 97839132 | CTGCCCACAGGCCAGG > - | DPYD TRNAN-GUU |
ENST00000370192.3:c.2043_2058del |
ENSP00000359211.3:p.Leu682IlefsTer24 |
3/15597 | 0.0001 | 1 | Likely pathogenic | |
| View | 1 | 100459183 | 100459183 | C > T | SLC35A3 SLC35A3 TRNAN-GUU SLC35A3 |
NM_001271684.1:c.73C>T NM_001271685.1:c.199C>T NM_012243.2:c.73C>T |
NP_001258613.1:p.Arg25Cys NP_001258614.1:p.Arg67Cys NP_036375.1:p.Arg25Cys |
5/13144 | 0.00019 | 1 | Likely pathogenic | |
| View | 1 | 109461364 | 109461364 | C > T | TRNAN-GUU GPSM2 |
NM_013296.4:c.1393C>T |
NP_037428.3:p.Gln465Ter |
2/13144 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 113637098 | 113637098 | A > - | TRNAN-GUU LRIG2 |
ENST00000361127.5:c.654del |
ENSP00000355396.4:p.Gln218HisfsTer24 |
2/13144 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 120302490 | 120302490 | G > A | TRNAN-GUU HMGCS2 HMGCS2 |
NM_001166107.1:c.560-585C>T NM_005518.3:c.682C>T |
NP_005509.1:p.Arg228Ter |
4/13144 | 0.00015 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 149895541 | 149895541 | G > A | SF3B4 |
NM_005850.4:c.1168C>T |
NP_005841.1:p.Arg390Ter |
1/13144 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 151377927 | 151377927 | T > - | POGZ POGZ POGZ POGZ POGZ |
NM_207171.2:c.3425del NM_001194937.1:c.3557del NM_001194938.1:c.3398del NM_015100.3:c.3584del NM_145796.3:c.3299del |
NP_997054.1:p.Lys1142ArgfsTer33 NP_001181866.1:p.Lys1186ArgfsTer33 NP_001181867.1:p.Lys1133ArgfsTer33 NP_055915.2:p.Lys1195ArgfsTer33 NP_665739.3:p.Lys1100ArgfsTer33 |
1/13144 | 4.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 155630146 | 155630146 | A > - | YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 YY1AP1 |
NM_001198901.1:c.1555del NM_001198902.1:c.1555del NM_001198900.1:c.1522del NM_018253.3:c.1522del NM_001198899.1:c.1522del NM_139119.2:c.1555del NM_139118.2:c.1693del NM_001198905.1:c.1495del NM_001198906.1:c.*498del NM_139121.2:c.1357del NM_001198903.1:c.1969del NM_001198904.1:c.1909del |
NP_001185830.1:p.Ser519ProfsTer8 NP_001185831.1:p.Ser519ProfsTer8 NP_001185829.1:p.Ser508ProfsTer8 NP_060723.2:p.Ser508ProfsTer8 NP_001185828.1:p.Ser508ProfsTer8 NP_620830.1:p.Ser519ProfsTer8 NP_620829.1:p.Ser565ProfsTer8 NP_001185834.1:p.Ser499ProfsTer8 NP_620832.1:p.Ser453ProfsTer8 NP_001185832.1:p.Ser657ProfsTer8 NP_001185833.1:p.Ser637ProfsTer8 |
2/13105 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 158614992 | 158614992 | A > - | SPTA1 |
NM_003126.2:c.4180del |
NP_003117.2:p.Cys1394AlafsTer25 |
2/13144 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 158641123 | 158641124 | - > ATTTCTTACT | SPTA1 |
NM_003126.2:c.1599_1599+9dupAGTAAGAAAT |
1/11983 | 4.0e-05 | 1 | curation | Likely pathogenic | |
| View | 1 | 158653202 | 158653202 | C > A | SPTA1 |
NM_003126.2:c.349G>T |
NP_003117.2:p.Glu117Ter |
2/13144 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 160105629 | 160105629 | G > C | ATP1A2 |
NM_000702.3:c.2285G>C |
NP_000693.1:p.Gly762Ala |
2/13144 | 8.0e-05 | 2 | curation | Likely pathogenic |
| View | 1 | 161277141 | 161277152 | GGTCACCCGGGA > - | MPZ |
NM_000530.6:c.130_141del |
NP_000521.2:p.Ser44_Thr47del |
1/14969 | 3.0e-05 | 1 | in_frame_indel | Likely pathogenic |
| View | 1 | 197072197 | 197072198 | TC > - | ASPM ASPM |
NM_001206846.1:c.4066-6904_4066-6903del NM_018136.4:c.6183_6184del |
NP_060606.3:p.Lys2062IlefsTer5 |
1/13144 | 4.0e-05 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 1 | 197104279 | 197104279 | A > T | ASPM ASPM |
NM_001206846.1:c.2120T>A NM_018136.4:c.2120T>A |
NP_001193775.1:p.Leu707Ter NP_060606.3:p.Leu707Ter |
2/13144 | 8.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 202722108 | 202722109 | AA > - | KDM5B |
NM_006618.3:c.1625_1626del |
NP_006609.3:p.Phe542CysfsTer23 |
1/13144 | 4.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 207644245 | 207644245 | T > - | CR2 CR2 |
NM_001877.4:c.1386del NM_001006658.2:c.1386del |
NP_001868.2:p.Val463TyrfsTer17 NP_001006659.1:p.Val463TyrfsTer17 |
1/13144 | 4.0e-05 | 2 | frameshift | 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 |
1/13144 | 4.0e-05 | 3 | non_synonymous | Likely pathogenic |
| View | 1 | 214791966 | 214791967 | TC > - | CENPF |
NM_016343.3:c.415_416del |
NP_057427.3:p.Leu139GlufsTer21 |
5/13105 | 0.00019 | 2 | frameshift | Likely pathogenic |
| View | 1 | 214813306 | 214813306 | A > - | CENPF |
NM_016343.3:c.1630del |
NP_057427.3:p.Ile544Ter |
2/13105 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 214815852 | 214815852 | G > T | CENPF |
NM_016343.3:c.4171G>T |
NP_057427.3:p.Glu1391Ter |
4/13105 | 0.00015 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 226109695 | 226109696 | AC > - | PYCR2 PYCR2 |
NM_001271681.1:c.318+208_318+209del NM_013328.3:c.402_403del |
NP_037460.2:p.Tyr135ArgfsTer26 |
2/13144 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 1 | 228345476 | 228345476 | G > A | GJC2 |
NM_020435.3:c.17G>A |
NP_065168.2:p.Trp6Ter |
2/14969 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 229567376 | 229567376 | G > C | ACTA1 |
NM_001100.3:c.1004C>G |
NP_001091.1:p.Pro335Arg |
1/13144 | 4.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | 1 | 231114941 | 231114941 | C > A | ARV1 |
NM_022786.1:c.90C>A |
NP_073623.1:p.Cys30Ter |
3/13144 | 0.00015 | 2 | premature_stop | Likely pathogenic |
| View | 1 | 245020952 | 245020952 | T > C | HNRNPU HNRNPU |
NM_031844.2:c.1562A>G NM_004501.3:c.1505A>G |
NP_114032.2:p.Asn521Ser NP_004492.2:p.Asn502Ser |
1/13144 | 4.0e-05 | 2 | curation | Likely pathogenic |
| View | 10 | 225977 | 225977 | C > T | ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 |
NM_001202468.1:c.25C>T NM_001202467.1:c.25C>T NM_001202466.1:c.25C>T NM_001202465.1:c.25C>T NM_001202464.1:c.25C>T NM_212479.3:c.25C>T NM_006624.5:c.25C>T |
NP_001189397.1:p.Gln9Ter NP_001189396.1:p.Gln9Ter NP_001189395.1:p.Gln9Ter NP_001189394.1:p.Gln9Ter NP_001189393.1:p.Gln9Ter NP_997644.2:p.Gln9Ter NP_006615.2:p.Gln9Ter |
1/13144 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 28884769 | 28884770 | CA > - | WAC WAC WAC |
NM_016628.4:c.720_721del NM_100486.3:c.610+5010_610+5011del NR_024557.2:n.1194_1195del |
NP_057712.2:p.His240GlnfsTer2 |
1/13144 | 4.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 10 | 28906653 | 28906653 | T > G | WAC WAC WAC |
NM_016628.4:c.1814T>G NM_100486.3:c.1505T>G NR_024557.2:n.2288T>G |
NP_057712.2:p.Leu605Ter NP_567823.1:p.Leu502Ter |
1/13144 | 4.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | 10 | 48390590 | 48390590 | G > - | RBP3 |
NM_002900.2:c.288del |
NP_002891.1:p.Glu97SerfsTer48 |
2/13144 | 8.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 10 | 73121920 | 73121920 | C > - | SLC29A3 SLC29A3 SLC29A3 SLC29A3 |
NM_001174098.1:c.*213del NM_018344.5:c.984del NR_033414.1:n.731del NR_033413.1:n.958del |
NP_060814.4:p.Asn329ThrfsTer76 |
1/13144 | 4.0e-05 | 2 | frameshift | Likely pathogenic |
| View | 10 | 73767841 | 73767841 | C > T | CHST3 |
NM_004273.4:c.1052C>T |
NP_004264.2:p.Ser351Phe |
3/13585 | 0.00015 | 2 | curation | Likely pathogenic |
| View | 10 | 76781789 | 76781789 | C > T | KAT6B KAT6B KAT6B |
NM_001256469.1:c.2296C>T NM_012330.3:c.3172C>T NM_001256468.1:c.2623C>T |
NP_001243398.1:p.Arg766Ter NP_036462.2:p.Arg1058Ter NP_001243397.1:p.Arg875Ter |
1/13144 | 4.0e-05 | 1 | ClinVar pathogenic variant | Likely pathogenic |
| View | 10 | 78704596 | 78704596 | G > - | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_002247.3:c.2663del NM_001014797.2:c.2675del NM_001271519.1:c.2672del NM_001271518.1:c.2513del NM_001161353.1:c.2786del NM_001161352.1:c.2837del |
NP_002238.2:p.Ala888GlyfsTer60 NP_001014797.1:p.Ala892GlyfsTer60 NP_001258448.1:p.Ala891GlyfsTer60 NP_001258447.1:p.Ala838GlyfsTer60 NP_001154825.1:p.Ala929GlyfsTer60 NP_001154824.1:p.Ala946GlyfsTer60 |
3/13144 | 0.00011 | 2 | frameshift | Likely pathogenic |