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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 10 | 76781908 | 76781909 | - > GAA | KAT6B KAT6B KAT6B |
NM_001256469.1:c.2434_2436dupGAA NM_012330.3:c.3310_3312dupGAA NM_001256468.1:c.2761_2763dupGAA |
NP_001243398.1:p.Glu812dup NP_036462.2:p.Glu1104dup NP_001243397.1:p.Glu921dup |
37/13144 | 0.00141 | 4 | in_frame_indel | Likely Benign |
| View | 10 | 76788489 | 76788489 | A > G | KAT6B KAT6B KAT6B |
NM_001256469.1:c.3031A>G NM_012330.3:c.3907A>G NM_001256468.1:c.3358A>G |
NP_001243398.1:p.Ser1011Gly NP_036462.2:p.Ser1303Gly NP_001243397.1:p.Ser1120Gly |
2/13144 | 8.0e-05 | 4 | curation | Likely Benign |
| View | 10 | 76788645 | 76788650 | GAGGAG > - | KAT6B KAT6B KAT6B |
NM_001256469.1:c.3198_3203del NM_012330.3:c.4074_4079del NM_001256468.1:c.3525_3530del |
NP_001243398.1:p.Glu1075_Glu1076del NP_036462.2:p.Glu1367_Glu1368del NP_001243397.1:p.Glu1184_Glu1185del |
58/13144 | 0.00221 | 4 | curation | Likely Benign |
| View | 10 | 76788659 | 76788660 | - > GAAGAGGAA | KAT6B KAT6B KAT6B |
NM_001256469.1:c.3221_3229dupAAGAGGAAG NM_012330.3:c.4097_4105dupAAGAGGAAG NM_001256468.1:c.3548_3556dupAAGAGGAAG |
NP_001243398.1:p.Glu1074_Glu1076dup NP_036462.2:p.Glu1366_Glu1368dup NP_001243397.1:p.Glu1183_Glu1185dup |
188/13144 | 0.00761 | 4 | curation | Likely Benign |
| View | 10 | 76789417 | 76789417 | G > A | KAT6B KAT6B KAT6B |
NM_001256469.1:c.3959G>A NM_012330.3:c.4835G>A NM_001256468.1:c.4286G>A |
NP_001243398.1:p.Arg1320His NP_036462.2:p.Arg1612His NP_001243397.1:p.Arg1429His |
119/13144 | 0.00453 | 4 | curation | Likely Benign |
| View | 10 | 78704741 | 78704742 | - > A | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_002247.3:c.2536-19dupT NM_001014797.2:c.2548-19dupT NM_001271519.1:c.2545-19dupT NM_001271518.1:c.2386-19dupT NM_001161353.1:c.2659-19dupT NM_001161352.1:c.2710-19dupT |
147/11961 | 0.00623 | 4 | curation | Likely Benign | |
| View | 10 | 79396215 | 79396215 | G > T | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_001271520.1:c.*286C>A NM_002247.3:c.378+808C>A NM_001271521.1:c.*104C>A NM_001014797.2:c.378+808C>A NM_001271522.1:c.437C>A NM_001271519.1:c.378+808C>A NM_001271518.1:c.378+808C>A NM_001161353.1:c.378+808C>A NM_001161352.1:c.378+808C>A |
NP_001258451.1:p.Pro146Gln |
75/13105 | 0.00286 | 4 | curation | Likely Benign |
| View | 10 | 79396252 | 79396252 | C > G | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_001271520.1:c.*249G>C NM_002247.3:c.378+771G>C NM_001271521.1:c.*67G>C NM_001014797.2:c.378+771G>C NM_001271522.1:c.400G>C NM_001271519.1:c.378+771G>C NM_001271518.1:c.378+771G>C NM_001161353.1:c.378+771G>C NM_001161352.1:c.378+771G>C |
NP_001258451.1:p.Glu134Gln |
129/13105 | 0.00496 | 4 | curation | Likely Benign |
| View | 10 | 79397246 | 79397248 | GAA > - | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_001271520.1:c.153_155del NM_002247.3:c.153_155del NM_001271521.1:c.153_155del NM_001014797.2:c.153_155del NM_001271522.1:c.153_155del NM_001271519.1:c.153_155del NM_001271518.1:c.153_155del NM_001161353.1:c.153_155del NM_001161352.1:c.153_155del |
NP_001258449.1:p.Ser60del NP_002238.2:p.Ser60del NP_001258450.1:p.Ser60del NP_001014797.1:p.Ser60del NP_001258451.1:p.Ser60del NP_001258448.1:p.Ser60del NP_001258447.1:p.Ser60del NP_001154825.1:p.Ser60del NP_001154824.1:p.Ser60del |
23/13144 | 0.00091 | 4 | curation | Likely Benign |
| View | 10 | 79397263 | 79397264 | - > GAG | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_001271520.1:c.135_137dupCTC NM_002247.3:c.135_137dupCTC NM_001271521.1:c.135_137dupCTC NM_001014797.2:c.135_137dupCTC NM_001271522.1:c.135_137dupCTC NM_001271519.1:c.135_137dupCTC NM_001271518.1:c.135_137dupCTC NM_001161353.1:c.135_137dupCTC NM_001161352.1:c.135_137dupCTC |
NP_001258449.1:p.Ser60dup NP_002238.2:p.Ser60dup NP_001258450.1:p.Ser60dup NP_001014797.1:p.Ser60dup NP_001258451.1:p.Ser60dup NP_001258448.1:p.Ser60dup NP_001258447.1:p.Ser60dup NP_001154825.1:p.Ser60dup NP_001154824.1:p.Ser60dup |
54/13144 | 0.00205 | 4 | curation | Likely Benign |
| View | 10 | 79397367 | 79397367 | T > C | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_001271520.1:c.34A>G NM_002247.3:c.34A>G NM_001271521.1:c.34A>G NM_001014797.2:c.34A>G NM_001271522.1:c.34A>G NM_001271519.1:c.34A>G NM_001271518.1:c.34A>G NM_001161353.1:c.34A>G NM_001161352.1:c.34A>G |
NP_001258449.1:p.Ser12Gly NP_002238.2:p.Ser12Gly NP_001258450.1:p.Ser12Gly NP_001014797.1:p.Ser12Gly NP_001258451.1:p.Ser12Gly NP_001258448.1:p.Ser12Gly NP_001258447.1:p.Ser12Gly NP_001154825.1:p.Ser12Gly NP_001154824.1:p.Ser12Gly |
92/13144 | 0.00358 | 4 | curation | Likely Benign |
| View | 10 | 79745881 | 79745881 | T > C | POLR3A |
NM_007055.3:c.2938A>G |
NP_008986.2:p.Ile980Val |
216/13144 | 0.00829 | 4 | curation | Likely Benign |
| View | 10 | 79769647 | 79769647 | C > T | POLR3A |
NM_007055.3:c.1745G>A |
NP_008986.2:p.Arg582His |
52/13144 | 0.00198 | 4 | curation | Likely Benign |
| View | 10 | 79769668 | 79769668 | T > A | POLR3A |
NM_007055.3:c.1724A>T |
NP_008986.2:p.Lys575Met |
128/13144 | 0.00502 | 4 | curation | Likely Benign |
| View | 10 | 81371554 | 81371554 | T > G | SFTPA1 SFTPA1 SFTPA1 SFTPA1 SFTPA1 SFTPA1 |
NM_001093770.2:c.23-5T>G NM_005411.4:c.-23-5T>G NM_001164644.1:c.-23-5T>G NM_001164645.1:c.23-5T>G NM_001164646.1:c.-23-5T>G NM_001164647.1:c.-23-5T>G |
73/11989 | 0.00309 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 10 | 86017767 | 86017767 | A > G | RGR RGR RGR |
NM_002921.3:c.756+5A>G NM_001012722.1:c.631-497A>G NM_001012720.1:c.744+5A>G |
116/11992 | 0.00484 | 4 | curation | Likely Benign | |
| View | 10 | 88439895 | 88439895 | C > T | LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 |
NM_001080114.1:c.302C>T NM_001080115.1:c.302C>T NM_001080116.1:c.302C>T NM_001171610.1:c.302C>T NM_007078.2:c.302C>T NM_001171611.1:c.302C>T |
NP_001073583.1:p.Pro101Leu NP_001073584.1:p.Pro101Leu NP_001073585.1:p.Pro101Leu NP_001165081.1:p.Pro101Leu NP_009009.1:p.Pro101Leu NP_001165082.1:p.Pro101Leu |
76/13144 | 0.00289 | 4 | curation | Likely Benign |
| View | 10 | 88446830 | 88446830 | G > A | LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 |
NM_001080114.1:c.349G>A NM_001080115.1:c.690-4823G>A NM_001080116.1:c.349G>A NM_001171610.1:c.694G>A NM_007078.2:c.690-4823G>A NM_001171611.1:c.694G>A |
NP_001073583.1:p.Asp117Asn NP_001073585.1:p.Asp117Asn NP_001165081.1:p.Asp232Asn NP_001165082.1:p.Asp232Asn |
146/13144 | 0.00567 | 4 | curation | Likely Benign |
| View | 10 | 88451715 | 88451715 | A > G | LDB3 LDB3 LDB3 LDB3 LDB3 LDB3 |
NM_001080114.1:c.611A>G NM_001080115.1:c.752A>G NM_001080116.1:c.611A>G NM_001171610.1:c.956A>G NM_007078.2:c.752A>G NM_001171611.1:c.956A>G |
NP_001073583.1:p.Lys204Arg NP_001073584.1:p.Lys251Arg NP_001073585.1:p.Lys204Arg NP_001165081.1:p.Lys319Arg NP_009009.1:p.Lys251Arg NP_001165082.1:p.Lys319Arg |
166/13144 | 0.00647 | 4 | curation | Likely Benign |
| View | 10 | 88822405 | 88822405 | G > T | GLUD1 |
NM_005271.3:c.921+8C>A |
70/11983 | 0.00292 | 4 | curation | Likely Benign | |
| View | 10 | 88834291 | 88834292 | TA > - | GLUD1 |
NM_005271.3:c.646+16_646+17del |
43/11947 | 0.00184 | 4 | curation | Likely Benign | |
| View | 10 | 89624340 | 89624340 | C > T | PTEN |
NM_000314.4:c.79+35C>T |
68/12648 | 0.00273 | 4 | curation | Likely Benign | |
| View | 10 | 89720637 | 89720638 | - > T | PTEN |
NM_000314.4:c.802-3dupT |
16/12645 | 0.00067 | 4 | curation | Likely Benign | |
| View | 10 | 94405364 | 94405364 | A > C | KIF11 |
NM_004523.3:c.2512A>C |
NP_004514.2:p.Asn838His |
5/13144 | 0.00019 | 4 | curation | Likely Benign |
| View | 10 | 97444321 | 97444321 | C > T | TCTN3 TCTN3 |
NM_015631.5:c.1030G>A NM_001143973.1:c.652-935G>A |
NP_056446.4:p.Gly344Arg |
153/13144 | 0.0059 | 4 | curation | Likely Benign |
| View | 10 | 97453433 | 97453433 | G > A | TCTN3 TCTN3 |
NM_015631.5:c.224C>T NM_001143973.1:c.224C>T |
NP_056446.4:p.Ala75Val NP_001137445.1:p.Ala75Val |
153/13144 | 0.0059 | 4 | curation | Likely Benign |
| View | 10 | 97983635 | 97983635 | C > A | BLNK BLNK BLNK BLNK BLNK BLNK BLNK BLNK BLNK |
NM_001258441.1:c.472G>T NM_001258442.1:c.349+3543G>T NM_001114094.1:c.472G>T NM_013314.3:c.472G>T NR_047683.1:n.590G>T NM_001258440.1:c.472G>T NR_047680.1:n.467+3543G>T NR_047681.1:n.484+3531G>T NR_047682.1:n.479+3531G>T |
NP_001245370.1:p.Ala158Ser NP_001107566.1:p.Ala158Ser NP_037446.1:p.Ala158Ser NP_001245369.1:p.Ala158Ser |
147/13146 | 0.00567 | 4 | curation | Likely Benign |
| View | 10 | 100189567 | 100189567 | C > G | HPS1 HPS1 |
NM_182639.2:c.848G>C NM_000195.3:c.848G>C |
NP_872577.1:p.Gly283Ala NP_000186.2:p.Gly283Ala |
43/13144 | 0.00167 | 4 | curation | Likely Benign |
| View | 10 | 100481427 | 100481427 | C > T | HPSE2 HPSE2 HPSE2 HPSE2 |
NM_021828.4:c.943G>A NM_001166244.1:c.769G>A NM_001166246.1:c.943G>A NM_001166245.1:c.607G>A |
NP_068600.4:p.Ala315Thr NP_001159716.1:p.Ala257Thr NP_001159718.1:p.Ala315Thr NP_001159717.1:p.Ala203Thr |
116/13144 | 0.00449 | 4 | curation | Likely Benign |
| View | 10 | 100481475 | 100481475 | C > T | HPSE2 HPSE2 HPSE2 HPSE2 |
NM_021828.4:c.895G>A NM_001166244.1:c.721G>A NM_001166246.1:c.895G>A NM_001166245.1:c.559G>A |
NP_068600.4:p.Ala299Thr NP_001159716.1:p.Ala241Thr NP_001159718.1:p.Ala299Thr NP_001159717.1:p.Ala187Thr |
101/13144 | 0.00388 | 4 | non_synonymous | Likely Benign |
| View | 10 | 101476226 | 101476226 | G > T | COX15 COX15 |
NM_004376.5:c.988-8C>A NM_078470.4:c.988-8C>A |
8/13810 | 0.00029 | 4 | curation | Likely Benign | |
| View | 10 | 101557063 | 101557063 | G > A | ABCC2 |
ENST00000370449.4:c.842G>A |
ENSP00000359478.4:p.Ser281Asn |
201/13774 | 0.0073 | 4 | curation | Likely Benign |
| View | 10 | 104159215 | 104159215 | C > T | NFKB2 NFKB2 NFKB2 |
NR_048560.1:n.1851C>T ENST00000369966.3:c.1288C>T ENST00000189444.6:c.1288C>T |
ENSP00000358983.3:p.Pro430Ser ENSP00000189444.6:p.Pro430Ser |
61/13144 | 0.00232 | 4 | curation | Likely Benign |
| View | 10 | 104359297 | 104359297 | G > T | SUFU SUFU |
NM_001178133.1:c.1018G>T NM_016169.3:c.1018G>T |
NP_001171604.1:p.Ala340Ser NP_057253.2:p.Ala340Ser |
211/13144 | 0.00814 | 4 | curation | Likely Benign |
| View | 10 | 104831613 | 104831613 | C > T | CNNM2 CNNM2 |
NM_017649.4:c.2233+17C>T NM_199076.2:c.2167+3134C>T |
43/11945 | 0.0018 | 4 | curation | Likely Benign | |
| View | 10 | 104858755 | 104858755 | A > C | NT5C2 NT5C2 |
NM_012229.4:c.634-14T>G NM_001134373.2:c.634-14T>G |
8/11944 | 0.00046 | 4 | curation | Likely Benign | |
| View | 10 | 111872643 | 111872643 | T > C | ADD3 ADD3 ADD3 |
NM_001121.2:c.304T>C NM_019903.3:c.304T>C NM_016824.3:c.304T>C |
NP_001112.2:p.Ser102Pro NP_063968.1:p.Ser102Pro NP_058432.1:p.Ser102Pro |
115/13105 | 0.0045 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 10 | 112343933 | 112343933 | T > G | SMC3 |
NM_005445.3:c.1092-8T>G |
79/11993 | 0.00342 | 4 | curation | Likely Benign | |
| View | 10 | 112360894 | 112360894 | T > A | SMC3 |
NM_005445.3:c.2644+6T>A |
24/11985 | 0.001 | 4 | curation | Likely Benign | |
| View | 10 | 112572473 | 112572473 | A > G | RBM20 |
NM_001134363.1:c.2318A>G |
NP_001127835.1:p.Lys773Arg |
27/13144 | 0.00103 | 4 | curation | Likely Benign |
| View | 10 | 112581039 | 112581039 | G > A | RBM20 |
NM_001134363.1:c.2662G>A |
NP_001127835.1:p.Asp888Asn |
67/13144 | 0.00259 | 4 | Likely Benign | |
| View | 10 | 118960774 | 118960774 | T > C | KCNK18 |
NM_181840.1:c.328T>C |
NP_862823.1:p.Cys110Arg |
207/13144 | 0.00791 | 4 | curation | Likely Benign |
| View | 10 | 121429462 | 121429462 | A > T | BAG3 |
NM_004281.3:c.280A>T |
NP_004272.2:p.Ile94Phe |
39/13144 | 0.00148 | 4 | curation | Likely Benign |
| View | 10 | 121436204 | 121436204 | C > T | BAG3 |
NM_004281.3:c.1138C>T |
NP_004272.2:p.Pro380Ser |
21/13144 | 0.0008 | 4 | curation | Likely Benign |
| View | 10 | 122666300 | 122666300 | T > G | WDR11 |
NM_018117.11:c.3450T>G |
NP_060587.8:p.Phe1150Leu |
17/13144 | 0.00065 | 4 | curation | Likely Benign |
| View | 10 | 123279677 | 123279677 | G > A | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.1057C>T NM_001144913.1:c.755C>T NM_001144914.1:c.749-4844C>T NM_000141.4:c.755C>T NM_023029.2:c.488C>T NM_001144919.1:c.488C>T NM_001144915.1:c.488C>T NM_001144916.1:c.410C>T NM_001144917.1:c.755C>T NM_022970.3:c.755C>T NM_001144918.1:c.410C>T |
NP_001138385.1:p.Ser252Leu NP_000132.3:p.Ser252Leu NP_075418.1:p.Ser163Leu NP_001138391.1:p.Ser163Leu NP_001138387.1:p.Ser163Leu NP_001138388.1:p.Ser137Leu NP_001138389.1:p.Ser252Leu NP_075259.4:p.Ser252Leu NP_001138390.1:p.Ser137Leu |
6/13144 | 0.00023 | 4 | curation | Likely Benign |
| View | 10 | 123325158 | 123325158 | G > A | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.757-14185C>T NM_001144913.1:c.170C>T NM_001144914.1:c.170C>T NM_000141.4:c.170C>T NM_023029.2:c.110-1065C>T NM_001144919.1:c.110-1065C>T NM_001144915.1:c.110-1065C>T NM_001144916.1:c.110-14185C>T NM_001144917.1:c.170C>T NM_022970.3:c.170C>T NM_001144918.1:c.110-14185C>T |
NP_001138385.1:p.Ser57Leu NP_001138386.1:p.Ser57Leu NP_000132.3:p.Ser57Leu NP_001138389.1:p.Ser57Leu NP_075259.4:p.Ser57Leu |
92/13144 | 0.0035 | 4 | curation | Likely Benign |
| View | 10 | 123353298 | 123353298 | C > T | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.681G>A NM_001144913.1:c.34G>A NM_001144914.1:c.34G>A NM_000141.4:c.34G>A NM_023029.2:c.34G>A NM_001144919.1:c.34G>A NM_001144915.1:c.34G>A NM_001144916.1:c.34G>A NM_001144917.1:c.34G>A NM_022970.3:c.34G>A NM_001144918.1:c.34G>A |
NP_001138385.1:p.Val12Met NP_001138386.1:p.Val12Met NP_000132.3:p.Val12Met NP_075418.1:p.Val12Met NP_001138391.1:p.Val12Met NP_001138387.1:p.Val12Met NP_001138388.1:p.Val12Met NP_001138389.1:p.Val12Met NP_075259.4:p.Val12Met NP_001138390.1:p.Val12Met |
5/13144 | 0.00019 | 4 | curation | Likely Benign |
| View | 10 | 127504998 | 127504998 | C > T | UROS |
NM_000375.2:c.63+8G>A |
171/13821 | 0.00619 | 4 | curation | Likely Benign | |
| View | 10 | 131639307 | 131639308 | - > CC | EBF3 |
NM_001005463.2:c.1346-12_1346-11dupGG |
202/11962 | 0.00844 | 4 | curation | Likely Benign |