Download: Excel
| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 12 | 10277906 | 10277906 | G > A | CLEC7A CLEC7A CLEC7A CLEC7A CLEC7A |
NM_022570.4:c.344C>T NM_197950.2:c.245C>T NM_197947.2:c.482C>T NM_197949.2:c.344C>T NM_197948.2:c.482C>T |
NP_072092.2:p.Ser115Leu NP_922941.1:p.Ser82Leu NP_922938.1:p.Ser161Leu NP_922940.1:p.Ser115Leu NP_922939.1:p.Ser161Leu |
78/8685 | 0.00466 | 5 | non_synonymous | Benign |
| View | 12 | 15130918 | 15130918 | G > C | PDE6H |
NM_006205.2:c.-29G>C |
33/8646 | 0.00191 | 5 | Benign | ||
| View | 12 | 21355489 | 21355489 | C > G | SLCO1B1 |
NM_006446.4:c.1200C>G |
NP_006437.3:p.Phe400Leu |
80/9129 | 0.00471 | 5 | non_synonymous | Benign |
| View | 12 | 48367327 | 48367327 | C > T | COL2A1 COL2A1 |
NM_033150.2:c.4120G>A NM_001844.4:c.4327G>A |
NP_149162.2:p.Gly1374Ser NP_001835.3:p.Gly1443Ser |
22/8686 | 0.00127 | 5 | Benign | |
| View | 12 | 48369407 | 48369407 | A > C | COL2A1 COL2A1 |
NM_033150.2:c.3391-19T>G NM_001844.4:c.3598-19T>G |
20/8647 | 0.00116 | 5 | three_prime_flank | Benign | |
| View | 12 | 49420078 | 49420078 | C > T | KMT2D |
NM_003482.3:c.15671G>A |
NP_003473.3:p.Arg5224His |
3/8685 | 0.00017 | 5 | non_synonymous | Benign |
| View | 12 | 49433848 | 49433848 | C > T | KMT2D |
NM_003482.3:c.7705G>A |
NP_003473.3:p.Gly2569Ser |
16/8685 | 0.00092 | 5 | non_synonymous | Benign |
| View | 12 | 49433883 | 49433883 | G > A | KMT2D |
NM_003482.3:c.7670C>T |
NP_003473.3:p.Pro2557Leu |
155/8685 | 0.00892 | 5 | non_synonymous | Benign |
| View | 12 | 49434924 | 49434924 | G > A | KMT2D |
NM_003482.3:c.6629C>T |
NP_003473.3:p.Pro2210Leu |
29/8685 | 0.00167 | 5 | non_synonymous | Benign |
| View | 12 | 49445190 | 49445216 | del > - | KMT2D |
NM_003482.3:c.2250_2276del |
NP_003473.3:p.Arg755_Pro-4015del |
26/8685 | 0.00161 | 5 | in_frame_indel | Benign |
| View | 12 | 49445392 | 49445392 | G > T | KMT2D |
NM_003482.3:c.2074C>A |
NP_003473.3:p.Pro692Thr |
76/8685 | 0.00438 | 5 | non_synonymous | Benign |
| View | 12 | 49445526 | 49445526 | G > T | KMT2D |
NM_003482.3:c.1940C>A |
NP_003473.3:p.Pro647Gln |
9/8685 | 0.00052 | 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 |
27/8685 | 0.00167 | 5 | non_synonymous | Benign |
| View | 12 | 52965165 | 52965165 | A > G | KRT74 |
NM_175053.3:c.821T>C |
NP_778223.2:p.Phe274Ser |
18/8685 | 0.00104 | 5 | Benign | |
| View | 12 | 56101421 | 56101421 | A > C | ITGA7 ITGA7 ITGA7 |
NM_001144996.1:c.46T>G NM_001144997.1:c.85+4426T>G NM_002206.2:c.46T>G |
NP_001138468.1:p.Cys16Gly NP_002197.2:p.Cys16Gly |
45/8685 | 0.00271 | 5 | non_synonymous | Benign |
| View | 12 | 58020582 | 58020582 | G > A | B4GALNT1 B4GALNT1 |
NM_001478.4:c.1547C>T NM_001276468.1:c.1382C>T |
NP_001469.1:p.Ala516Val NP_001263397.1:p.Ala461Val |
140/8685 | 0.00806 | 5 | non_synonymous | Benign |
| View | 12 | 66856782 | 66856782 | C > T | GRIP1 GRIP1 |
NM_021150.3:c.964G>A NM_001178074.1:c.964G>A |
NP_066973.2:p.Ala322Thr NP_001171545.1:p.Ala322Thr |
64/8685 | 0.00368 | 5 | non_synonymous | Benign |
| View | 12 | 88483274 | 88483274 | A > - | CEP290 |
ENST00000552810.1:c.3574-9del |
47/10521 | 0.00413 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 102025925 | 102025925 | G > A | MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 MYBPC1 |
NM_001254720.1:c.445+9G>A NM_002465.3:c.556+9G>A NM_206820.2:c.481+9G>A NM_001254721.1:c.481+9G>A NM_206821.2:c.481+9G>A NM_001254722.1:c.403+9G>A NM_001254723.1:c.442+9G>A NM_001254719.1:c.481+9G>A NM_001254718.1:c.481+9G>A NM_206819.2:c.556+9G>A |
74/8685 | 0.00432 | 5 | five_prime_intronic | Benign | |
| View | 12 | 103352174 | 103352175 | - > GCAGCAGCAGCA | ASCL1 |
NM_004316.3:c.175_186dupCAGCAGCAGCAG |
NP_004307.2:p.Gln59_Gln62dup |
70/8685 | 0.00403 | 5 | in_frame_indel | Benign |
| View | 12 | 110230597 | 110230597 | C > T | TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 |
NM_021625.4:c.1684G>A NM_001177428.1:c.1543G>A NM_147204.2:c.1504G>A NM_001177431.1:c.1582G>A NM_001177433.1:c.1363G>A |
NP_067638.3:p.Val562Ile NP_001170899.1:p.Val515Ile NP_671737.1:p.Val502Ile NP_001170902.1:p.Val528Ile NP_001170904.1:p.Val455Ile |
131/8685 | 0.00754 | 5 | Benign | |
| View | 12 | 110240859 | 110240859 | C > A | TRPV4 TRPV4 TRPV4 TRPV4 TRPV4 |
NM_021625.4:c.649G>T NM_001177428.1:c.649G>T NM_147204.2:c.649G>T NM_001177431.1:c.547G>T NM_001177433.1:c.649G>T |
NP_067638.3:p.Ala217Ser NP_001170899.1:p.Ala217Ser NP_671737.1:p.Ala217Ser NP_001170902.1:p.Ala183Ser NP_001170904.1:p.Ala217Ser |
80/8685 | 0.00478 | 5 | Benign | |
| View | 12 | 111066563 | 111066565 | AAA > - | TCTN1 TCTN1 TCTN1 TCTN1 TCTN1 |
NM_001173976.1:c.293-6_293-4del NM_001173975.1:c.305-6_305-4del NM_024549.5:c.473-6_473-4del NM_001082538.2:c.473-6_473-4del NM_001082537.2:c.473-6_473-4del |
166/8685 | 0.01007 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 12 | 111902514 | 111902514 | G > A | ATXN2 |
NM_002973.3:c.3322C>T |
NP_002964.3:p.Pro1108Ser |
25/8685 | 0.00144 | 5 | non_synonymous | 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 |
89/8685 | 0.00524 | 5 | Benign | |
| View | 12 | 116445451 | 116445451 | A > - | MED13L |
NM_015335.4:c.2013-10del |
131/8685 | 0.00771 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 116445451 | 116445452 | - > A | MED13L |
NM_015335.4:c.2013-10dupT |
70/8685 | 0.00415 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 122296608 | 122296608 | A > C | HPD HPD |
NM_001171993.1:c.-103T>G ENST00000289004.4:c.15T>G |
ENSP00000289004.4:p.Ser5Arg |
195/9385 | 0.01092 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 12 | 122762764 | 122762765 | - > AA | CLIP1 CLIP1 CLIP1 |
NM_002956.2:c.3884-15_3884-14dupTT NM_001247997.1:c.3917-15_3917-14dupTT NM_198240.1:c.3779-15_3779-14dupTT |
337/8646 | 0.01972 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 124221796 | 124221796 | G > A | ATP6V0A2 |
NM_012463.3:c.1016G>A |
NP_036595.2:p.Arg339His |
208/10521 | 0.00998 | 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 |
194/10521 | 0.00931 | 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 |
82/8685 | 0.00495 | 5 | five_prime_flank | Benign | |
| View | 13 | 20763341 | 20763341 | C > T | GJB2 |
NM_004004.5:c.380G>A |
NP_003995.2:p.Arg127His |
84/10521 | 0.00423 | 5 | Benign | |
| View | 13 | 20763735 | 20763735 | G > A | GJB2 |
NM_004004.5:c.-15C>T |
86/10482 | 0.00434 | 5 | Benign | ||
| View | 13 | 20763754 | 20763754 | G > A | GJB2 |
NM_004004.5:c.-22-12C>T |
421/10483 | 0.02204 | 5 | Benign | ||
| View | 13 | 23909142 | 23909142 | T > C | SACS SACS |
NM_001278055.1:c.8432A>G NM_014363.5:c.8873A>G |
NP_001264984.1:p.Lys2811Arg NP_055178.3:p.Lys2958Arg |
143/10521 | 0.00689 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 23911234 | 23911234 | G > T | SACS SACS |
NM_001278055.1:c.6340C>A NM_014363.5:c.6781C>A |
NP_001264984.1:p.Leu2114Ile NP_055178.3:p.Leu2261Ile |
87/10521 | 0.00418 | 5 | Benign | |
| View | 13 | 23913549 | 23913549 | T > C | SACS SACS |
NM_001278055.1:c.4025A>G NM_014363.5:c.4466A>G |
NP_001264984.1:p.Asn1342Ser NP_055178.3:p.Asn1489Ser |
133/10521 | 0.00632 | 5 | Benign | |
| View | 13 | 28498699 | 28498700 | - > GCC | PDX1 |
NM_000209.3:c.726_728dupGCC |
NP_000200.1:p.Pro244dup |
125/8685 | 0.00766 | 5 | Benign | |
| View | 13 | 32911463 | 32911463 | A > G | BRCA2 |
ENST00000380152.3:c.2971A>G |
ENSP00000369497.3:p.Asn991Asp |
705/8686 | 0.04127 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 13 | 32912733 | 32912733 | C > T | BRCA2 |
ENST00000380152.3:c.4241C>T |
ENSP00000369497.3:p.Thr1414Met |
25/8685 | 0.00144 | 5 | non_synonymous | Benign |
| View | 13 | 32914592 | 32914592 | C > T | BRCA2 |
ENST00000380152.3:c.6100C>T |
ENSP00000369497.3:p.Arg2034Cys |
105/8685 | 0.00604 | 5 | Benign | |
| View | 13 | 32914815 | 32914815 | G > A | BRCA2 |
ENST00000380152.3:c.6323G>A |
ENSP00000369497.3:p.Arg2108His |
24/8685 | 0.00138 | 5 | Benign | |
| View | 13 | 32929007 | 32929007 | G > C | BRCA2 |
ENST00000380152.3:c.7017G>C |
ENSP00000369497.3:p.Lys2339Asn |
32/8685 | 0.00184 | 5 | Benign | |
| View | 13 | 32930598 | 32930598 | T > C | BRCA2 |
ENST00000380152.3:c.7469T>C |
ENSP00000369497.3:p.Ile2490Thr |
179/8686 | 0.01094 | 5 | Benign | |
| View | 13 | 32953550 | 32953550 | G > A | BRCA2 |
ENST00000380152.3:c.8851G>A |
ENSP00000369497.3:p.Ala2951Thr |
117/8685 | 0.00679 | 5 | Benign | |
| View | 13 | 32972626 | 32972626 | A > T | BRCA2 |
ENST00000380152.3:c.9976A>T |
ENSP00000369497.3:p.Lys3326Ter |
148/8685 | 0.00864 | 5 | premature_stop | Benign |
| View | 13 | 32972884 | 32972884 | A > G | BRCA2 |
ENST00000380152.3:c.10234A>G |
ENSP00000369497.3:p.Ile3412Val |
294/8686 | 0.01744 | 5 | Benign | |
| View | 13 | 39262669 | 39262669 | G > C | FREM2 |
NM_207361.4:c.1188G>C |
NP_997244.3:p.Gln396His |
51/10521 | 0.00252 | 5 | non_synonymous | Benign |
| View | 13 | 39264597 | 39264597 | T > A | FREM2 |
NM_207361.4:c.3116T>A |
NP_997244.3:p.Met1039Lys |
115/10521 | 0.00551 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |