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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 | 9020600 | 9020600 | G > A | A2ML1 A2ML1 |
ENST00000299698.7:c.3880G>A NR_046256.1:n.2575G>A |
ENSP00000299698.7:p.Val1294Ile |
20/6174 | 0.00162 | 5 | non_synonymous | Benign |
| View | 12 | 9085325 | 9085330 | GCAGCA > - | PHC1 |
NM_004426.2:c.1284_1289del |
NP_004417.2:p.Gln438_Gln439del |
71/6214 | 0.00587 | 5 | in_frame_indel | Benign |
| View | 12 | 10277906 | 10277906 | G > A | CLEC7A CLEC7A CLEC7A CLEC7A CLEC7A |
NM_022570.4:c.344C>T NM_197948.2:c.482C>T NM_197950.2:c.245C>T NM_197949.2:c.344C>T NM_197947.2:c.482C>T |
NP_072092.2:p.Ser115Leu NP_922939.1:p.Ser161Leu NP_922941.1:p.Ser82Leu NP_922940.1:p.Ser115Leu NP_922938.1:p.Ser161Leu |
47/6213 | 0.00402 | 5 | non_synonymous | Benign |
| View | 12 | 21355489 | 21355489 | C > G | SLCO1B1 |
NM_006446.4:c.1200C>G |
NP_006437.3:p.Phe400Leu |
52/6625 | 0.0043 | 5 | non_synonymous | Benign |
| View | 12 | 49420078 | 49420078 | C > T | KMT2D |
NM_003482.3:c.15671G>A |
NP_003473.3:p.Arg5224His |
2/6213 | 0.00016 | 5 | non_synonymous | Benign |
| View | 12 | 49433883 | 49433883 | G > A | KMT2D |
NM_003482.3:c.7670C>T |
NP_003473.3:p.Pro2557Leu |
117/6213 | 0.00942 | 5 | non_synonymous | Benign |
| View | 12 | 49434924 | 49434924 | G > A | KMT2D |
NM_003482.3:c.6629C>T |
NP_003473.3:p.Pro2210Leu |
17/6213 | 0.00137 | 5 | non_synonymous | Benign |
| View | 12 | 49445190 | 49445216 | del > - | KMT2D |
NM_003482.3:c.2250_2276del |
NP_003473.3:p.Arg755_Pro-4015del |
14/6213 | 0.00121 | 5 | in_frame_indel | Benign |
| View | 12 | 49445392 | 49445392 | G > T | KMT2D |
NM_003482.3:c.2074C>A |
NP_003473.3:p.Pro692Thr |
49/6213 | 0.00394 | 5 | non_synonymous | Benign |
| View | 12 | 49445526 | 49445526 | G > T | KMT2D |
NM_003482.3:c.1940C>A |
NP_003473.3:p.Pro647Gln |
6/6213 | 0.00048 | 5 | Benign | |
| View | 12 | 52139786 | 52139786 | A > T | SCN8A SCN8A |
NM_014191.3:c.2098A>T NM_001177984.2:c.2098A>T |
NP_055006.1:p.Ile700Leu NP_001171455.1:p.Ile700Leu |
16/6213 | 0.00137 | 5 | non_synonymous | Benign |
| View | 12 | 52965165 | 52965165 | A > G | KRT74 |
NM_175053.3:c.821T>C |
NP_778223.2:p.Phe274Ser |
14/6213 | 0.00113 | 5 | Benign | |
| View | 12 | 56101421 | 56101421 | A > C | ITGA7 ITGA7 ITGA7 |
NM_001144996.1:c.46T>G NM_002206.2:c.46T>G NM_001144997.1:c.85+4426T>G |
NP_001138468.1:p.Cys16Gly NP_002197.2:p.Cys16Gly |
24/6213 | 0.00201 | 5 | non_synonymous | Benign |
| View | 12 | 58020582 | 58020582 | G > A | B4GALNT1 B4GALNT1 |
NM_001276468.1:c.1382C>T NM_001478.4:c.1547C>T |
NP_001263397.1:p.Ala461Val NP_001469.1:p.Ala516Val |
101/6213 | 0.00813 | 5 | non_synonymous | Benign |
| View | 12 | 66856782 | 66856782 | C > T | GRIP1 GRIP1 |
NM_001178074.1:c.964G>A NM_021150.3:c.964G>A |
NP_001171545.1:p.Ala322Thr NP_066973.2:p.Ala322Thr |
34/6213 | 0.00274 | 5 | non_synonymous | Benign |
| View | 12 | 88483274 | 88483274 | A > - | CEP290 |
ENST00000552810.1:c.3574-9del |
28/8004 | 0.00312 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 102025925 | 102025925 | G > A | MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 |
NM_206821.2:c.481+9G>A NM_206819.2:c.556+9G>A NM_001254722.1:c.403+9G>A NM_206820.2:c.481+9G>A NM_001254718.1:c.481+9G>A NM_001254720.1:c.445+9G>A NM_001254723.1:c.442+9G>A NM_002465.3:c.556+9G>A NM_001254719.1:c.481+9G>A NM_001254721.1:c.481+9G>A |
39/6213 | 0.00322 | 5 | five_prime_intronic | Benign | |
| View | 12 | 103352174 | 103352175 | - > GCAGCAGCAGCA | ASCL1 |
NM_004316.3:c.175_186dupCAGCAGCAGCAG |
NP_004307.2:p.Gln59_Gln62dup |
38/6213 | 0.00306 | 5 | in_frame_indel | Benign |
| View | 12 | 110230597 | 110230597 | C > T | TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 |
NM_021625.4:c.1684G>A NM_001177433.1:c.1363G>A NM_147204.2:c.1504G>A NM_001177428.1:c.1543G>A NM_001177431.1:c.1582G>A |
NP_067638.3:p.Val562Ile NP_001170904.1:p.Val455Ile NP_671737.1:p.Val502Ile NP_001170899.1:p.Val515Ile NP_001170902.1:p.Val528Ile |
91/6213 | 0.00732 | 5 | Benign | |
| View | 12 | 110240859 | 110240859 | C > A | TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 |
NM_021625.4:c.649G>T NM_001177433.1:c.649G>T NM_147204.2:c.649G>T NM_001177428.1:c.649G>T NM_001177431.1:c.547G>T |
NP_067638.3:p.Ala217Ser NP_001170904.1:p.Ala217Ser NP_671737.1:p.Ala217Ser NP_001170899.1:p.Ala217Ser NP_001170902.1:p.Ala183Ser |
41/6213 | 0.00354 | 5 | Benign | |
| View | 12 | 111066563 | 111066565 | AAA > - | TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 |
NM_001173975.1:c.305-6_305-4del NM_001082537.2:c.473-6_473-4del NM_001082538.2:c.473-6_473-4del NM_001173976.1:c.293-6_293-4del NM_024549.5:c.473-6_473-4del |
118/6213 | 0.01014 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 12 | 114837349 | 114837349 | C > A | TBX5 TBX5 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 |
69/6213 | 0.00563 | 5 | Benign | |
| View | 12 | 122296608 | 122296608 | A > C | HPD HPD |
NM_001171993.1:c.-103T>G ENST00000289004.4:c.15T>G |
ENSP00000289004.4:p.Ser5Arg |
122/6866 | 0.00939 | 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 |
138/8004 | 0.00868 | 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 |
131/8004 | 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 |
53/6213 | 0.00451 | 5 | five_prime_flank | Benign | |
| View | 13 | 20763341 | 20763341 | C > T | GJB2 |
NM_004004.5:c.380G>A |
NP_003995.2:p.Arg127His |
69/8004 | 0.00462 | 5 | Benign | |
| View | 13 | 20763735 | 20763735 | G > A | GJB2 |
NM_004004.5:c.-15C>T |
65/7965 | 0.00427 | 5 | Benign | ||
| View | 13 | 20763754 | 20763754 | G > A | GJB2 |
NM_004004.5:c.-22-12C>T |
287/7966 | 0.0199 | 5 | Benign | ||
| View | 13 | 23909142 | 23909142 | T > C | SACS SACS |
NM_014363.5:c.8873A>G NM_001278055.1:c.8432A>G |
NP_055178.3:p.Lys2958Arg NP_001264984.1:p.Lys2811Arg |
96/8004 | 0.00612 | 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 |
511/6214 | 0.04208 | 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 |
70/6213 | 0.00563 | 5 | Benign | |
| View | 13 | 32914815 | 32914815 | G > A | BRCA2 |
ENST00000380152.3:c.6323G>A |
ENSP00000369497.3:p.Arg2108His |
15/6213 | 0.00121 | 5 | Benign | |
| View | 13 | 32929007 | 32929007 | G > C | BRCA2 |
ENST00000380152.3:c.7017G>C |
ENSP00000369497.3:p.Lys2339Asn |
22/6213 | 0.00177 | 5 | Benign | |
| View | 13 | 32930598 | 32930598 | T > C | BRCA2 |
ENST00000380152.3:c.7469T>C |
ENSP00000369497.3:p.Ile2490Thr |
124/6214 | 0.01062 | 5 | Benign | |
| View | 13 | 32953550 | 32953550 | G > A | BRCA2 |
ENST00000380152.3:c.8851G>A |
ENSP00000369497.3:p.Ala2951Thr |
76/6213 | 0.0062 | 5 | Benign | |
| View | 13 | 32972626 | 32972626 | A > T | BRCA2 |
ENST00000380152.3:c.9976A>T |
ENSP00000369497.3:p.Lys3326Ter |
112/6213 | 0.00917 | 5 | premature_stop | Benign |
| View | 13 | 32972884 | 32972884 | A > G | BRCA2 |
ENST00000380152.3:c.10234A>G |
ENSP00000369497.3:p.Ile3412Val |
170/6214 | 0.01416 | 5 | Benign | |
| View | 13 | 39262669 | 39262669 | G > C | FREM2 |
NM_207361.4:c.1188G>C |
NP_997244.3:p.Gln396His |
34/8004 | 0.00225 | 5 | non_synonymous | Benign |
| View | 13 | 39264597 | 39264597 | T > A | FREM2 |
NM_207361.4:c.3116T>A |
NP_997244.3:p.Met1039Lys |
79/8004 | 0.00494 | 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 |
83/8004 | 0.00525 | 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 |
106/8004 | 0.00662 | 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 |
103/6213 | 0.00837 | 5 | Benign | |
| View | 13 | 101020827 | 101020827 | C > T | PCCA PCCA PCCA |
NM_000282.3:c.1745C>T NM_001127692.2:c.1667C>T NM_001178004.1:c.1745C>T |
NP_000273.2:p.Ser582Leu NP_001121164.1:p.Ser556Leu NP_001171475.1:p.Ser582Leu |
68/8004 | 0.00456 | 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 |
44/6175 | 0.00356 | 5 | polypyrimidine_tract | Benign | |
| View | 13 | 110866109 | 110866109 | T > A | COL4A1 |
NM_001845.4:c.279+20A>T |
29/6174 | 0.00235 | 5 | five_prime_intronic | Benign | |
| View | 13 | 111084656 | 111084656 | C > T | COL4A2 |
ENST00000360467.5:c.649-16C>T |
34/6174 | 0.00275 | 5 | three_prime_flank | Benign | |
| View | 13 | 111121570 | 111121570 | A > G | COL4A2 |
ENST00000360467.5:c.2102A>G |
ENSP00000353654.5:p.Lys701Arg |
90/6213 | 0.0074 | 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 |
19/6213 | 0.00161 | 5 | non_synonymous | Benign |
| View | 14 | 21792807 | 21792807 | G > A | RPGRIP1 |
NM_020366.3:c.1793G>A |
NP_065099.3:p.Arg598Gln |
54/6213 | 0.00435 | 5 | Benign |