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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 12 | 114837349 | 114837349 | C > A | TBX5 |
NM_181486.2:c.331G>T NM_000192.3:c.331G>T NM_080717.2:c.181G>T |
NP_852259.1:p.Asp111Tyr NP_000183.2:p.Asp111Tyr NP_542448.1:p.Asp61Tyr |
65/5119 | 0.00645 | 5 | Benign | |
| View | 12 | 122296608 | 122296608 | A > C | HPD |
NM_001171993.1:c.-103T>G ENST00000289004.4:c.15T>G |
ENSP00000289004.4:p.Ser5Arg |
106/5772 | 0.00979 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 12 | 124221796 | 124221796 | G > A | ATP6V0A2 |
NM_012463.3:c.1016G>A |
NP_036595.2:p.Arg339His |
121/6913 | 0.00875 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 12 | 124228414 | 124228414 | A > G | ATP6V0A2 |
NM_012463.3:c.1121A>G |
NP_036595.2:p.Lys374Arg |
114/6913 | 0.00825 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 12 | 133214596 | 133214596 | G > A | POLE |
NM_006231.2:c.5678+4C>T |
46/5119 | 0.00479 | 5 | five_prime_flank | Benign | |
| View | 13 | 20763754 | 20763754 | G > A | GJB2 |
NM_004004.5:c.-22-12C>T |
244/6895 | 0.01972 | 5 | Benign | ||
| View | 13 | 23909142 | 23909142 | T > C | SACS |
NM_014363.5:c.8873A>G NM_001278055.1:c.8432A>G |
NP_055178.3:p.Lys2958Arg NP_001264984.1:p.Lys2811Arg |
88/6913 | 0.00644 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 32911463 | 32911463 | A > G | BRCA2 |
ENST00000380152.3:c.2971A>G |
ENSP00000369497.3:p.Asn991Asp |
416/5120 | 0.0417 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 32914592 | 32914592 | C > T | BRCA2 |
ENST00000380152.3:c.6100C>T |
ENSP00000369497.3:p.Arg2034Cys |
57/5119 | 0.00557 | 5 | Benign | |
| View | 13 | 32929007 | 32929007 | G > C | BRCA2 |
ENST00000380152.3:c.7017G>C |
ENSP00000369497.3:p.Lys2339Asn |
19/5119 | 0.00186 | 5 | Benign | |
| View | 13 | 32930598 | 32930598 | T > C | BRCA2 |
ENST00000380152.3:c.7469T>C |
ENSP00000369497.3:p.Ile2490Thr |
99/5120 | 0.01016 | 5 | Benign | |
| View | 13 | 32953550 | 32953550 | G > A | BRCA2 |
ENST00000380152.3:c.8851G>A |
ENSP00000369497.3:p.Ala2951Thr |
64/5119 | 0.00635 | 5 | Benign | |
| View | 13 | 32972626 | 32972626 | A > T | BRCA2 |
ENST00000380152.3:c.9976A>T |
ENSP00000369497.3:p.Lys3326Ter |
105/5119 | 0.01045 | 5 | premature_stop | Benign |
| View | 13 | 32972884 | 32972884 | A > G | BRCA2 |
ENST00000380152.3:c.10234A>G |
ENSP00000369497.3:p.Ile3412Val |
117/5120 | 0.01182 | 5 | Benign | |
| View | 13 | 37576613 | 37576614 | AT > - | EXOSC8 |
NM_181503.2:c.55-10_55-9del |
33/5101 | 0.00333 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 13 | 39262669 | 39262669 | G > C | FREM2 |
NM_207361.4:c.1188G>C |
NP_997244.3:p.Gln396His |
29/6913 | 0.00217 | 5 | non_synonymous | Benign |
| View | 13 | 39264597 | 39264597 | T > A | FREM2 |
NM_207361.4:c.3116T>A |
NP_997244.3:p.Met1039Lys |
63/6913 | 0.00456 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 39452993 | 39452993 | C > T | FREM2 |
NM_207361.4:c.8885C>T |
NP_997244.3:p.Ala2962Val |
68/6913 | 0.00492 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 48571139 | 48571139 | A > C | SUCLA2 |
NM_003850.2:c.110T>G |
NP_003841.1:p.Leu37Trp |
86/6913 | 0.00622 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 101020827 | 101020827 | C > T | PCCA |
NM_001178004.1:c.1745C>T NM_000282.3:c.1745C>T NM_001127692.2:c.1667C>T |
NP_001171475.1:p.Ser582Leu NP_000273.2:p.Ser582Leu NP_001121164.1:p.Ser556Leu |
59/6913 | 0.00463 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 110853882 | 110853882 | G > C | COL4A1 |
NM_001845.4:c.1000-13C>G |
28/5102 | 0.00274 | 5 | polypyrimidine_tract | Benign | |
| View | 13 | 110866109 | 110866109 | T > A | COL4A1 |
NM_001845.4:c.279+20A>T |
25/5101 | 0.00245 | 5 | five_prime_intronic | Benign | |
| View | 13 | 111084656 | 111084656 | C > T | COL4A2 |
ENST00000360467.5:c.649-16C>T |
26/5101 | 0.00255 | 5 | three_prime_flank | Benign | |
| View | 13 | 111121570 | 111121570 | A > G | COL4A2 |
ENST00000360467.5:c.2102A>G |
ENSP00000353654.5:p.Lys701Arg |
77/5119 | 0.00772 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 14 | 20943408 | 20943408 | G > A | PNP |
NM_000270.3:c.649G>A |
NP_000261.2:p.Val217Ile |
16/5119 | 0.00166 | 5 | non_synonymous | Benign |
| View | 14 | 21792807 | 21792807 | G > A | RPGRIP1 |
NM_020366.3:c.1793G>A |
NP_065099.3:p.Arg598Gln |
44/5119 | 0.0043 | 5 | Benign | |
| View | 14 | 23876267 | 23876267 | C > T | MYH6 |
NM_002471.3:c.166G>A |
NP_002462.2:p.Gly56Arg |
802/5122 | 0.08141 | 5 | Benign | |
| View | 14 | 50655357 | 50655357 | G > C | SOS2 |
NM_006939.2:c.572C>G |
NP_008870.2:p.Pro191Arg |
51/5119 | 0.00518 | 5 | non_synonymous | Benign |
| View | 14 | 58949211 | 58949212 | - > T | KIAA0586 |
NM_014749.3:c.2717-9dupT NM_001244191.1:c.2690-9dupT NM_001244190.1:c.2900-9dupT NM_001244192.1:c.2813-9dupT NM_001244189.1:c.3104-9dupT NM_001244193.1:c.2525-9dupT |
39/5101 | 0.00382 | 5 | three_prime_flank | Benign | |
| View | 14 | 104029361 | 104029361 | A > G | APOPT1 |
NM_032374.3:c.62A>G |
NP_115750.2:p.Lys21Arg |
36/5119 | 0.00381 | 5 | non_synonymous | Benign |
| View | 15 | 23890278 | 23890278 | G > A | MAGEL2 |
NM_019066.4:c.2612C>T |
NP_061939.3:p.Ala871Val |
14/5119 | 0.00137 | 5 | non_synonymous | Benign |
| View | 15 | 23890279 | 23890279 | C > A | MAGEL2 |
NM_019066.4:c.2611G>T |
NP_061939.3:p.Ala871Ser |
14/5119 | 0.00137 | 5 | non_synonymous | Benign |
| View | 15 | 23891811 | 23891811 | G > A | MAGEL2 |
NM_019066.4:c.1079C>T |
NP_061939.3:p.Ala360Val |
83/5119 | 0.0082 | 5 | non_synonymous | Benign |
| View | 15 | 25584285 | 25584285 | T > C | UBE3A |
NM_130839.2:c.2618A>G NM_000462.3:c.2627A>G NM_130838.1:c.2558A>G |
NM_130839.2:c.2618A>G(p.%3D) NM_000462.3:c.2627A>G(p.%3D) NM_130838.1:c.2558A>G(p.%3D) |
32/5771 | 0.00277 | 5 | Benign | |
| View | 15 | 28447657 | 28447657 | G > T | HERC2 |
NM_004667.5:c.7316C>A |
NP_004658.3:p.Ala2439Asp |
44/5119 | 0.0043 | 5 | non_synonymous | Benign |
| View | 15 | 33952638 | 33952638 | C > T | RYR3 |
NM_001243996.1:c.4622+14C>T NM_001036.3:c.4622+14C>T |
22/5101 | 0.00216 | 5 | five_prime_intronic | Benign | |
| View | 15 | 43020434 | 43020434 | G > A | CDAN1 |
NM_138477.2:c.2836C>T |
NP_612486.2:p.Arg946Trp |
29/5119 | 0.00283 | 5 | non_synonymous | Benign |
| View | 15 | 44855395 | 44855395 | T > C | SPG11 |
NM_001160227.1:c.6917A>G NM_025137.3:c.7256A>G |
NP_001153699.1:p.Lys2306Arg NP_079413.3:p.Lys2419Arg |
34/5119 | 0.00352 | 5 | Benign | |
| View | 15 | 45397993 | 45397993 | C > T | DUOX2 |
NM_014080.4:c.2182G>A |
NP_054799.4:p.Ala728Thr |
108/5119 | 0.01055 | 5 | Benign | |
| View | 15 | 45403967 | 45403967 | A > G | DUOX2 |
NM_014080.4:c.512T>C |
NP_054799.4:p.Leu171Pro |
39/5119 | 0.00381 | 3 | non_synonymous | Benign |
| View | 15 | 48722907 | 48722907 | G > A | FBN1 |
ENST00000316623.5:c.6832C>T |
ENSP00000325527.5:p.Pro2278Ser |
20/5120 | 0.00225 | 5 | Benign | |
| View | 15 | 48748913 | 48748913 | C > T | FBN1 |
ENST00000316623.5:c.5343G>A |
ENST00000316623.5:c.5343G>A(p.%3D) |
63/5119 | 0.00635 | 5 | Benign | |
| View | 15 | 48780353 | 48780353 | G > A | FBN1 |
ENST00000316623.5:c.3294C>T |
ENST00000316623.5:c.3294C>T(p.%3D) |
57/5119 | 0.00557 | 5 | Benign | |
| View | 15 | 48782042 | 48782042 | T > C | FBN1 |
ENST00000316623.5:c.3082+6A>G |
26/5119 | 0.00254 | 5 | five_prime_flank | Benign | |
| View | 15 | 48796042 | 48796042 | G > A | FBN1 |
ENST00000316623.5:c.2055C>T |
ENST00000316623.5:c.2055C>T(p.%3D) |
11/5119 | 0.00107 | 5 | Benign | |
| View | 15 | 57554344 | 57554344 | T > G | TCF12 |
NM_207037.1:c.1520T>G NM_207036.1:c.1520T>G NM_207040.1:c.938T>G NM_003205.3:c.1448T>G NM_207038.1:c.1448T>G |
NP_996920.1:p.Leu507Arg NP_996919.1:p.Leu507Arg NP_996923.1:p.Leu313Arg NP_003196.1:p.Leu483Arg NP_996921.1:p.Leu483Arg |
8/5119 | 0.00078 | 1 | Benign | |
| View | 15 | 66777315 | 66777316 | - > TC | MAP2K1 |
NM_002755.3:c.694-8_694-7dupTC |
46/5101 | 0.00451 | 5 | polypyrimidine_tract | Benign | |
| View | 15 | 72639003 | 72639003 | T > C | HEXA |
NM_000520.4:c.1195A>G |
NP_000511.2:p.Asn399Asp |
145/6913 | 0.01078 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 15 | 73002101 | 73002101 | A > G | BBS4 |
NR_045566.1:n.499A>G NR_045565.1:n.244A>G ENST00000268057.4:c.137A>G ENST00000395205.2:c.161A>G |
ENSP00000268057.4:p.Lys46Arg ENSP00000378631.2:p.Lys54Arg |
61/5119 | 0.00596 | 5 | Benign | |
| View | 15 | 89867424 | 89867424 | C > T | POLG |
NM_002693.2:c.1984G>A NM_001126131.1:c.1984G>A |
NP_002684.1:p.Glu662Lys NP_001119603.1:p.Glu662Lys |
71/6913 | 0.00564 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |