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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 13 | 32929007 | 32929007 | G > C | BRCA2 |
ENST00000380152.3:c.7017G>C |
ENSP00000369497.3:p.Lys2339Asn |
26/6955 | 0.00187 | 5 | Benign | |
| View | 13 | 32930598 | 32930598 | T > C | BRCA2 |
ENST00000380152.3:c.7469T>C |
ENSP00000369497.3:p.Ile2490Thr |
149/6956 | 0.0115 | 5 | Benign | |
| View | 13 | 32953550 | 32953550 | G > A | BRCA2 |
ENST00000380152.3:c.8851G>A |
ENSP00000369497.3:p.Ala2951Thr |
90/6955 | 0.00654 | 5 | Benign | |
| View | 13 | 32972626 | 32972626 | A > T | BRCA2 |
ENST00000380152.3:c.9976A>T |
ENSP00000369497.3:p.Lys3326Ter |
124/6955 | 0.00906 | 5 | premature_stop | Benign |
| View | 13 | 32972884 | 32972884 | A > G | BRCA2 |
ENST00000380152.3:c.10234A>G |
ENSP00000369497.3:p.Ile3412Val |
212/6956 | 0.01567 | 5 | Benign | |
| View | 13 | 39262669 | 39262669 | G > C | FREM2 |
NM_207361.4:c.1188G>C |
NP_997244.3:p.Gln396His |
39/8745 | 0.00234 | 5 | non_synonymous | Benign |
| View | 13 | 39264597 | 39264597 | T > A | FREM2 |
NM_207361.4:c.3116T>A |
NP_997244.3:p.Met1039Lys |
91/8745 | 0.0052 | 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 |
92/8745 | 0.00532 | 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 |
118/8745 | 0.00675 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 100635010 | 100635011 | - > CCA | ZIC2 |
NM_007129.3:c.716_718dupACC |
NP_009060.2:p.His239dup |
130/6955 | 0.00942 | 5 | Benign | |
| View | 13 | 101020827 | 101020827 | C > T | PCCA PCCA PCCA |
NM_000282.3:c.1745C>T NM_001178004.1:c.1745C>T NM_001127692.2:c.1667C>T |
NP_000273.2:p.Ser582Leu NP_001171475.1:p.Ser582Leu NP_001121164.1:p.Ser556Leu |
81/8745 | 0.00492 | 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 |
52/6917 | 0.00376 | 5 | polypyrimidine_tract | Benign | |
| View | 13 | 110866109 | 110866109 | T > A | COL4A1 |
NM_001845.4:c.279+20A>T |
30/6916 | 0.00217 | 5 | five_prime_intronic | Benign | |
| View | 13 | 111084656 | 111084656 | C > T | COL4A2 |
ENST00000360467.5:c.649-16C>T |
38/6916 | 0.00275 | 5 | three_prime_flank | Benign | |
| View | 13 | 111121570 | 111121570 | A > G | COL4A2 |
ENST00000360467.5:c.2102A>G |
ENSP00000353654.5:p.Lys701Arg |
111/6955 | 0.00812 | 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 |
28/6955 | 0.00208 | 5 | non_synonymous | Benign |
| View | 14 | 21792807 | 21792807 | G > A | RPGRIP1 |
NM_020366.3:c.1793G>A |
NP_065099.3:p.Arg598Gln |
63/6955 | 0.00453 | 5 | Benign | |
| View | 14 | 21878012 | 21878012 | C > T | CHD8 CHD8 |
NM_020920.3:c.1525G>A NM_001170629.1:c.2362G>A |
NP_065971.2:p.Val509Met NP_001164100.1:p.Val788Met |
14/6955 | 0.00101 | 5 | non_synonymous | Benign |
| View | 14 | 23876267 | 23876267 | C > T | MYH6 |
NM_002471.3:c.166G>A |
NP_002462.2:p.Gly56Arg |
1064/6958 | 0.07976 | 5 | Benign | |
| View | 14 | 50655357 | 50655357 | G > C | SOS2 |
NM_006939.2:c.572C>G |
NP_008870.2:p.Pro191Arg |
67/6955 | 0.00496 | 5 | non_synonymous | Benign |
| View | 14 | 58949211 | 58949212 | - > T | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.2717-9dupT NM_001244189.1:c.3104-9dupT NM_001244190.1:c.2900-9dupT NM_001244191.1:c.2690-9dupT NM_001244192.1:c.2813-9dupT NM_001244193.1:c.2525-9dupT |
56/6916 | 0.00405 | 5 | three_prime_flank | Benign | |
| View | 14 | 75514489 | 75514489 | C > G | MLH3 MLH3 |
NM_014381.2:c.1870G>C NM_001040108.1:c.1870G>C |
NP_055196.2:p.Glu624Gln NP_001035197.1:p.Glu624Gln |
132/6955 | 0.00949 | 5 | Benign | |
| View | 14 | 95236139 | 95236139 | C > T | GSC |
NM_173849.2:c.214G>A |
NP_776248.1:p.Ala72Thr |
55/6955 | 0.0041 | 5 | non_synonymous | Benign |
| View | 14 | 104029361 | 104029361 | A > G | APOPT1 |
NM_032374.3:c.62A>G |
NP_115750.2:p.Lys21Arg |
62/6955 | 0.00482 | 5 | non_synonymous | Benign |
| View | 15 | 23890198 | 23890198 | T > C | MAGEL2 |
NM_019066.4:c.2692A>G |
NP_061939.3:p.Ser898Gly |
18/6955 | 0.00129 | 5 | non_synonymous | Benign |
| View | 15 | 23890278 | 23890278 | G > A | MAGEL2 |
NM_019066.4:c.2612C>T |
NP_061939.3:p.Ala871Val |
28/6955 | 0.00208 | 5 | non_synonymous | Benign |
| View | 15 | 23890279 | 23890279 | C > A | MAGEL2 |
NM_019066.4:c.2611G>T |
NP_061939.3:p.Ala871Ser |
28/6955 | 0.00208 | 5 | non_synonymous | Benign |
| View | 15 | 23891811 | 23891811 | G > A | MAGEL2 |
NM_019066.4:c.1079C>T |
NP_061939.3:p.Ala360Val |
120/6955 | 0.0087 | 5 | non_synonymous | Benign |
| View | 15 | 23891989 | 23891989 | G > A | MAGEL2 |
NM_019066.4:c.901C>T |
NP_061939.3:p.Pro301Ser |
35/6955 | 0.00252 | 5 | non_synonymous | Benign |
| View | 15 | 25584285 | 25584285 | T > C | UBE3A UBE3A UBE3A |
NM_130839.2:c.2618A>G NM_130838.1:c.2558A>G NM_000462.3:c.2627A>G |
NP_570854.1:p.Ter873= NP_570853.1:p.Ter853= NP_000453.2:p.Ter876= |
51/7607 | 0.00342 | 5 | Benign | |
| View | 15 | 28447657 | 28447657 | G > T | HERC2 |
NM_004667.5:c.7316C>A |
NP_004658.3:p.Ala2439Asp |
44/6955 | 0.00316 | 5 | non_synonymous | Benign |
| View | 15 | 33952638 | 33952638 | C > T | RYR3 RYR3 |
NM_001243996.1:c.4622+14C>T NM_001036.3:c.4622+14C>T |
30/6916 | 0.00217 | 5 | five_prime_intronic | Benign | |
| View | 15 | 40457337 | 40457337 | C > T | BUB1B |
ENST00000287598.6:c.119C>T |
ENSP00000287598.6:p.Thr40Met |
75/6955 | 0.00568 | 5 | Benign | |
| View | 15 | 42693833 | 42693833 | G > A | CAPN3 CAPN3 CAPN3 |
NM_173087.1:c.1211-6G>A NM_000070.2:c.1355-6G>A NM_024344.1:c.1355-6G>A |
57/6955 | 0.00417 | 5 | Benign | ||
| View | 15 | 43020434 | 43020434 | G > A | CDAN1 |
NM_138477.2:c.2836C>T |
NP_612486.2:p.Arg946Trp |
45/6955 | 0.00324 | 5 | non_synonymous | Benign |
| View | 15 | 44855395 | 44855395 | T > C | SPG11 SPG11 |
NM_025137.3:c.7256A>G NM_001160227.1:c.6917A>G |
NP_079413.3:p.Lys2419Arg NP_001153699.1:p.Lys2306Arg |
45/6955 | 0.00338 | 5 | Benign | |
| View | 15 | 45392075 | 45392075 | G > A | DUOX2 |
NM_014080.4:c.3200C>T |
NP_054799.4:p.Ser1067Leu |
6524/6964 | 0.85332 | 5 | Benign | |
| View | 15 | 45397993 | 45397993 | C > T | DUOX2 |
NM_014080.4:c.2182G>A |
NP_054799.4:p.Ala728Thr |
136/6955 | 0.00978 | 5 | Benign | |
| View | 15 | 45403967 | 45403967 | A > G | DUOX2 |
NM_014080.4:c.512T>C |
NP_054799.4:p.Leu171Pro |
50/6955 | 0.00367 | 3 | non_synonymous | Benign |
| View | 15 | 45403978 | 45403978 | G > A | DUOX2 |
NM_014080.4:c.501C>T |
NP_054799.4:p.Asn167= |
52/6955 | 0.00381 | 5 | synonymous | Benign |
| View | 15 | 45408933 | 45408933 | T > C | DUOXA2 |
NM_207581.3:c.554+6T>C |
6628/6963 | 0.86127 | 5 | Benign | ||
| View | 15 | 48722907 | 48722907 | G > A | FBN1 |
ENST00000316623.5:c.6832C>T |
ENSP00000325527.5:p.Pro2278Ser |
33/6956 | 0.00259 | 5 | Benign | |
| View | 15 | 48748913 | 48748913 | C > T | FBN1 |
ENST00000316623.5:c.5343G>A |
ENSP00000325527.5:p.Val1781= |
81/6955 | 0.00597 | 5 | Benign | |
| View | 15 | 48780353 | 48780353 | G > A | FBN1 |
ENST00000316623.5:c.3294C>T |
ENSP00000325527.5:p.Asp1098= |
79/6955 | 0.00575 | 5 | Benign | |
| View | 15 | 48782042 | 48782042 | T > C | FBN1 |
ENST00000316623.5:c.3082+6A>G |
48/6955 | 0.00345 | 5 | five_prime_flank | Benign | |
| View | 15 | 48782174 | 48782174 | C > T | FBN1 |
ENST00000316623.5:c.2956G>A |
ENSP00000325527.5:p.Ala986Thr |
14/6955 | 0.00115 | 5 | Benign | |
| View | 15 | 48796042 | 48796042 | G > A | FBN1 |
ENST00000316623.5:c.2055C>T |
ENSP00000325527.5:p.Cys685= |
15/6955 | 0.00108 | 5 | Benign | |
| View | 15 | 48818329 | 48818329 | A > G | FBN1 |
ENST00000316623.5:c.986T>C |
ENSP00000325527.5:p.Ile329Thr |
31/6955 | 0.00223 | 5 | Benign | |
| View | 15 | 57554344 | 57554344 | T > G | TCF12 TCF12 TCF12 TCF12 TCF12 |
NM_207040.1:c.938T>G NM_003205.3:c.1448T>G NM_207038.1:c.1448T>G NM_207037.1:c.1520T>G NM_207036.1:c.1520T>G |
NP_996923.1:p.Leu313Arg NP_003196.1:p.Leu483Arg NP_996921.1:p.Leu483Arg NP_996920.1:p.Leu507Arg NP_996919.1:p.Leu507Arg |
14/6955 | 0.00101 | 1 | Benign | |
| View | 15 | 66777315 | 66777316 | - > TC | MAP2K1 |
NM_002755.3:c.694-8_694-7dupTC |
59/6916 | 0.00427 | 5 | polypyrimidine_tract | Benign |