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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 15 | 91292917 | 91292917 | A > G | BLM |
NM_000057.2:c.419A>G |
NP_000048.1:p.Glu140Gly |
31/6913 | 0.00231 | 5 | non_synonymous | Benign |
| View | 16 | 2112521 | 2112521 | C > A | TSC2 |
NM_001077183.1:c.1281C>A NM_001114382.1:c.1281C>A NM_000548.3:c.1281C>A |
NM_001077183.1:c.1281C>A(p.%3D) NM_001114382.1:c.1281C>A(p.%3D) NM_000548.3:c.1281C>A(p.%3D) |
32/5119 | 0.00313 | 5 | Benign | |
| View | 16 | 2124416 | 2124416 | G > A | TSC2 |
NM_001077183.1:c.2545+26G>A NM_001114382.1:c.2545+26G>A NM_000548.3:c.2545+26G>A |
48/5101 | 0.0047 | 5 | Benign | ||
| View | 16 | 2130190 | 2130190 | C > T | TSC2 |
NM_001077183.1:c.3290C>T NM_001114382.1:c.3422C>T NM_000548.3:c.3422C>T |
NP_001070651.1:p.Ala1097Val NP_001107854.1:p.Ala1141Val NP_000539.2:p.Ala1141Val |
7/5119 | 0.00068 | 5 | Benign | |
| View | 16 | 2138546 | 2138546 | G > A | TSC2 |
NM_001077183.1:c.5158G>A NM_001114382.1:c.5290G>A NM_000548.3:c.5359G>A |
NP_001070651.1:p.Gly1720Ser NP_001107854.1:p.Gly1764Ser NP_000539.2:p.Gly1787Ser |
23/5119 | 0.00225 | 5 | non_synonymous | Benign |
| View | 16 | 3632567 | 3632567 | G > A | SLX4 |
NM_032444.2:c.5281C>T |
NP_115820.2:p.Arg1761Cys |
18/5119 | 0.00176 | 3 | non_synonymous | Benign |
| View | 16 | 3778363 | 3778363 | C > T | CREBBP |
NM_004380.2:c.6685G>A NM_001079846.1:c.6571G>A |
NP_004371.2:p.Gly2229Ser NP_001073315.1:p.Gly2191Ser |
10/5120 | 0.00098 | 5 | non_synonymous | Benign |
| View | 16 | 3779329 | 3779329 | C > T | CREBBP |
NM_004380.2:c.5719G>A NM_001079846.1:c.5605G>A |
NP_004371.2:p.Ala1907Thr NP_001073315.1:p.Ala1869Thr |
23/5119 | 0.00234 | 5 | Benign | |
| View | 16 | 3820723 | 3820723 | T > C | CREBBP |
NM_004380.2:c.2728A>G NM_001079846.1:c.2614A>G |
NP_004371.2:p.Thr910Ala NP_001073315.1:p.Thr872Ala |
25/5119 | 0.00244 | 5 | ClinVar pathogenic variant | Benign |
| View | 16 | 3820879 | 3820879 | G > A | CREBBP |
NM_004380.2:c.2572C>T NM_001079846.1:c.2458C>T |
NP_004371.2:p.Pro858Ser NP_001073315.1:p.Pro820Ser |
13/5119 | 0.00127 | 5 | non_synonymous | Benign |
| View | 16 | 3831230 | 3831230 | G > T | CREBBP |
NM_004380.2:c.1651C>A NM_001079846.1:c.1537C>A |
NP_004371.2:p.Leu551Ile NP_001073315.1:p.Leu513Ile |
84/5119 | 0.0083 | 5 | non_synonymous | Benign |
| View | 16 | 9858502 | 9858502 | C > G | GRIN2A |
NM_001134408.1:c.2899G>C NM_000833.3:c.2899G>C NM_001134407.1:c.2899G>C |
NP_001127880.1:p.Val967Leu NP_000824.1:p.Val967Leu NP_001127879.1:p.Val967Leu |
93/5119 | 0.00908 | 5 | non_synonymous | Benign |
| View | 16 | 23200921 | 23200921 | G > A | SCNN1G |
NM_001039.3:c.547G>A |
NP_001030.2:p.Gly183Ser |
62/6913 | 0.00456 | 5 | Benign | |
| View | 16 | 23457291 | 23457293 | AAA > - | COG7 |
NM_153603.3:c.170-11_170-9del |
26/6913 | 0.00188 | 5 | polypyrimidine_tract | Benign | |
| View | 16 | 23649446 | 23649446 | T > C | PALB2 |
NM_024675.3:c.53A>G |
NP_078951.2:p.Lys18Arg |
6/5119 | 0.00059 | 1 | Benign | |
| View | 16 | 29824787 | 29824787 | C > G | PRRT2 |
ENST00000358758.7:c.412C>G ENST00000567659.1:c.412C>G ENST00000300797.6:c.412C>G |
ENSP00000351608.7:p.Pro138Ala ENSP00000456226.1:p.Pro138Ala ENSP00000300797.6:p.Pro138Ala |
66/5119 | 0.00674 | 5 | Benign | |
| View | 16 | 30732558 | 30732558 | C > A | SRCAP |
ENST00000262518.4:c.3302C>A |
ENSP00000262518.4:p.Thr1101Lys |
49/5119 | 0.00488 | 4 | non_synonymous | Benign |
| View | 16 | 51175754 | 51175754 | C > G | SALL1 |
NM_002968.2:c.379G>C NM_001127892.1:c.88G>C |
NP_002959.2:p.Val127Leu NP_001121364.1:p.Val30Leu |
26/5119 | 0.00254 | 5 | non_synonymous | Benign |
| View | 16 | 51175841 | 51175841 | T > C | SALL1 |
NM_002968.2:c.292A>G NM_001127892.1:c.1A>G |
NP_002959.2:p.Met98Val NP_001121364.1:p.Met1? |
16/5119 | 0.00156 | 4 | changed from 2 to 4: loss_of_initiation | Benign |
| View | 16 | 53692694 | 53692694 | A > G | RPGRIP1L |
NM_015272.2:c.1340T>C NM_001127897.1:c.1340T>C |
NP_056087.2:p.Leu447Ser NP_001121369.1:p.Leu447Ser |
53/6913 | 0.00383 | 5 | Benign | |
| View | 16 | 56532346 | 56532346 | T > C | BBS2 |
ENST00000245157.5:c.1659+3A>G |
66/5119 | 0.00684 | 5 | Benign | ||
| View | 16 | 57493629 | 57493629 | G > C | COQ9 |
NM_020312.3:c.864G>C |
NP_064708.1:p.Lys288Asn |
61/6913 | 0.00456 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 16 | 69364992 | 69364992 | G > A | COG8 |
NM_032382.4:c.1589C>T |
NP_115758.3:p.Pro530Leu |
32/6913 | 0.00231 | 5 | non_synonymous | Benign |
| View | 16 | 81118207 | 81118208 | - > A | GCSH |
NR_033249.1:n.326-9dupT NM_004483.4:c.293-9dupT |
58/6913 | 0.00419 | 5 | polypyrimidine_tract | Benign | |
| View | 16 | 81942003 | 81942003 | C > T | PLCG2 |
NM_002661.3:c.1558-18C>T |
41/5101 | 0.00421 | 5 | three_prime_flank | Benign | |
| View | 16 | 88496285 | 88496285 | G > T | ZNF469 |
NM_001127464.1:c.2407G>T |
NP_001120936.1:p.Ala803Ser |
68/6913 | 0.00492 | 3 | non_synonymous | Benign |
| View | 16 | 88497528 | 88497528 | C > T | ZNF469 |
NM_001127464.1:c.3566C>T |
NP_001120936.1:p.Pro1189Leu |
69/6913 | 0.00499 | 5 | non_synonymous | Benign |
| View | 16 | 88500822 | 88500822 | C > G | ZNF469 |
NM_001127464.1:c.6860C>G |
NP_001120936.1:p.Pro2287Arg |
80/6913 | 0.00586 | 5 | non_synonymous | Benign |
| View | 16 | 89253891 | 89253891 | C > T | CDH15 |
NM_004933.2:c.718C>T |
NP_004924.1:p.Leu240Phe |
17/5119 | 0.00166 | 5 | non_synonymous | Benign |
| View | 16 | 89390908 | 89390908 | G > A | ANKRD11 LOC100287036 |
NM_001256182.1:c.-59-7422C>T NM_013275.5:c.-59-7422C>T NR_045839.1:n.403-7422C>T NM_001256183.1:c.-56-7425C>T NM_001242885.1:c.293G>A |
NP_001229814.1:p.Ser98Asn |
22/5101 | 0.00216 | 5 | non_synonymous | Benign |
| View | 17 | 3550800 | 3550800 | G > A | CTNS |
NM_001031681.2:c.124G>A NM_004937.2:c.124G>A |
NP_001026851.2:p.Val42Ile NP_004928.2:p.Val42Ile |
68/6913 | 0.00506 | 5 | Benign | |
| View | 17 | 4937413 | 4937413 | G > A | SLC52A1 |
NM_017986.3:c.371C>T NM_001104577.1:c.371C>T |
NP_060456.3:p.Ala124Val NP_001098047.1:p.Ala124Val |
11/5119 | 0.00107 | 3 | non_synonymous | Benign |
| View | 17 | 7123352 | 7123352 | C > T | ACADVL DLG4 |
NM_000018.3:c.49C>T NM_001270448.1:c.-255C>T NM_001365.3:c.-1184G>A NM_001033859.2:c.49C>T NM_001270447.1:c.132-89C>T |
NP_000009.1:p.Leu17Phe NP_001029031.1:p.Leu17Phe |
58/6913 | 0.00434 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 17 | 7123838 | 7123838 | C > T | ACADVL |
NM_001270447.1:c.263C>T NM_000018.3:c.194C>T NM_001270448.1:c.-35C>T NM_001033859.2:c.139-85C>T |
NP_001257376.1:p.Pro88Leu NP_000009.1:p.Pro65Leu |
96/6913 | 0.00723 | 5 | Benign | |
| View | 17 | 10539089 | 10539089 | G > A | MYH3 |
NM_002470.3:c.3938C>T |
NP_002461.2:p.Thr1313Ile |
60/5119 | 0.00615 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 17 | 10541497 | 10541497 | C > T | MYH3 |
NM_002470.3:c.3592G>A |
NP_002461.2:p.Ala1198Thr |
87/5119 | 0.0085 | 5 | non_synonymous | Benign |
| View | 17 | 14110391 | 14110391 | G > A | COX10 |
NM_001303.3:c.1193G>A |
NP_001294.2:p.Arg398His |
7/6913 | 0.00051 | 5 | non_synonymous | Benign |
| View | 17 | 17696987 | 17696987 | C > T | RAI1 |
NM_030665.3:c.725C>T |
NP_109590.3:p.Pro242Leu |
49/5121 | 0.00508 | 5 | Benign | |
| View | 17 | 29496957 | 29496957 | T > A | NF1 |
NM_000267.3:c.528T>A NM_001042492.2:c.528T>A NM_001128147.2:c.528T>A |
NP_000258.1:p.Asp176Glu NP_001035957.1:p.Asp176Glu NP_001121619.1:p.Asp176Glu |
27/5119 | 0.00264 | 5 | Benign | |
| View | 17 | 29509641 | 29509641 | G > A | NF1 |
NM_000267.3:c.846G>A NM_001042492.2:c.846G>A NM_001128147.2:c.846G>A |
NM_000267.3:c.846G>A(p.%3D) NM_001042492.2:c.846G>A(p.%3D) NM_001128147.2:c.846G>A(p.%3D) |
32/5119 | 0.00313 | 5 | Benign | |
| View | 17 | 29631609 | 29631609 | G > C | NF1 EVI2B |
NM_000267.3:c.4773-21229G>C NM_001042492.2:c.4836-21229G>C NM_006495.3:c.1019C>G |
NP_006486.3:p.Pro340Arg |
2/5101 | 0.0002 | 5 | non_synonymous | Benign |
| View | 17 | 29631870 | 29631870 | C > A | NF1 EVI2B |
NM_000267.3:c.4773-20968C>A NM_001042492.2:c.4836-20968C>A NM_006495.3:c.758G>T |
NP_006486.3:p.Cys253Phe |
12/5101 | 0.00118 | 5 | non_synonymous | Benign |
| View | 17 | 29677184 | 29677184 | C > T | NF1 |
NM_001042492.2:c.7322-17C>T NM_000267.3:c.7259-17C>T |
41/5101 | 0.00402 | 5 | Benign | ||
| View | 17 | 36091625 | 36091625 | G > T | HNF1B |
NM_000458.2:c.1006C>A NM_001165923.1:c.928C>A |
NP_000449.1:p.His336Asn NP_001159395.1:p.His310Asn |
1/5119 | 0.0001 | 1 | Benign | |
| View | 17 | 40689453 | 40689453 | T > A | NAGLU |
NM_000263.3:c.421T>A |
NP_000254.2:p.Ser141Thr |
53/5771 | 0.00494 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 17 | 42082213 | 42082213 | A > G | NAGS |
NM_153006.2:c.182A>G |
NP_694551.1:p.Glu61Gly |
45/6913 | 0.00333 | 5 | non_synonymous | Benign |
| View | 17 | 42426587 | 42426587 | C > T | GRN |
NM_002087.2:c.55C>T |
NP_002078.1:p.Arg19Trp |
34/5119 | 0.00361 | 4 | non_synonymous | Benign |
| View | 17 | 42457677 | 42457677 | G > T | ITGA2B |
NM_000419.3:c.1545-8C>A |
22/5120 | 0.00215 | 5 | polypyrimidine_tract | Benign | |
| View | 17 | 44248903 | 44248903 | C > G | KANSL1 |
ENST00000572904.1:c.607G>C ENST00000262419.6:c.607G>C ENST00000432791.1:c.607G>C |
ENSP00000461484.1:p.Gly203Arg ENSP00000262419.6:p.Gly203Arg ENSP00000387393.1:p.Gly203Arg |
11/5119 | 0.00117 | 5 | non_synonymous | Benign |
| View | 17 | 48263786 | 48263786 | G > A | COL1A1 |
ENST00000225964.5:c.3897C>T |
ENST00000225964.5:c.3897C>T(p.%3D) |
22/5771 | 0.00191 | 1 | Benign |