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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 11 | 119213319 | 119213319 | C > A | MFRP C1QTNF5 |
NM_031433.3:c.1374G>T NM_015645.4:c.-1263G>T |
NP_113621.1:p.Leu458Phe |
150/9594 | 0.00787 | 5 | non_synonymous | Benign |
| View | 11 | 119215586 | 119215586 | C > T | MFRP C1QTNF5 |
NM_031433.3:c.770G>A NM_015645.4:c.-1867G>A |
NP_113621.1:p.Arg257His |
159/9594 | 0.0086 | 5 | Benign | |
| View | 11 | 128709126 | 128709126 | A > G | KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 |
NM_000220.4:c.1070T>C NM_153767.3:c.1013T>C NM_153766.2:c.1013T>C NM_153764.2:c.1013T>C NM_153765.2:c.1064T>C |
NP_000211.1:p.Met357Thr NP_722451.1:p.Met338Thr NP_722450.1:p.Met338Thr NP_722448.1:p.Met338Thr NP_722449.3:p.Met355Thr |
190/11422 | 0.0084 | 5 | Benign | |
| View | 11 | 128709940 | 128709940 | T > C | KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 |
NM_000220.4:c.256A>G NM_153767.3:c.199A>G NM_153766.2:c.199A>G NM_153764.2:c.199A>G NM_153765.2:c.250A>G |
NP_000211.1:p.Thr86Ala NP_722451.1:p.Thr67Ala NP_722450.1:p.Thr67Ala NP_722448.1:p.Thr67Ala NP_722449.3:p.Thr84Ala |
313/11422 | 0.01471 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 12 | 2794993 | 2794993 | C > T | CACNA1C CACNA1C CACNA1C-AS1 CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C CACNA1C |
NM_199460.2:c.5914C>T NM_000719.6:c.5665C>T NR_045725.1:n.333+4313G>A NM_001167623.1:c.5665C>T NM_001167625.1:c.5845C>T NM_001167624.1:c.5770C>T NM_001129829.1:c.5788C>T NM_001129839.1:c.5683C>T NM_001129838.1:c.5689C>T NM_001129827.1:c.5809C>T NM_001129837.1:c.5689C>T NM_001129832.1:c.5725C>T NM_001129843.1:c.5665C>T NM_001129831.1:c.5749C>T NM_001129842.1:c.5665C>T NM_001129830.1:c.5770C>T NM_001129841.1:c.5665C>T NM_001129840.1:c.5665C>T NM_001129836.1:c.5716C>T NM_001129835.1:c.5722C>T NM_001129846.1:c.5632C>T NM_001129834.1:c.5722C>T NM_001129833.1:c.5722C>T NM_001129844.1:c.5656C>T |
NP_955630.2:p.Arg1972Cys NP_000710.5:p.Arg1889Cys NP_001161095.1:p.Arg1889Cys NP_001161097.1:p.Arg1949Cys NP_001161096.1:p.Arg1924Cys NP_001123301.1:p.Arg1930Cys NP_001123311.1:p.Arg1895Cys NP_001123310.1:p.Arg1897Cys NP_001123299.1:p.Arg1937Cys NP_001123309.1:p.Arg1897Cys NP_001123304.1:p.Arg1909Cys NP_001123315.1:p.Arg1889Cys NP_001123303.1:p.Arg1917Cys NP_001123314.1:p.Arg1889Cys NP_001123302.1:p.Arg1924Cys NP_001123313.1:p.Arg1889Cys NP_001123312.1:p.Arg1889Cys NP_001123308.1:p.Arg1906Cys NP_001123307.1:p.Arg1908Cys NP_001123318.1:p.Arg1878Cys NP_001123306.1:p.Arg1908Cys NP_001123305.1:p.Arg1908Cys NP_001123316.1:p.Arg1886Cys |
114/9783 | 0.00603 | 5 | Benign | |
| View | 12 | 5153405 | 5153405 | G > T | KCNA5 |
NM_002234.3:c.92G>T |
NP_002225.2:p.Gly31Val |
97/9594 | 0.00511 | 5 | non_synonymous | Benign |
| View | 12 | 6145649 | 6145649 | A > T | VWF |
ENST00000261405.5:c.2451T>A |
ENSP00000261405.5:p.His817Gln |
178/9594 | 0.01016 | 5 | Benign | |
| View | 12 | 6443001 | 6443001 | G > A | TNFRSF1A |
NM_001065.3:c.224C>T |
NP_001056.1:p.Pro75Leu |
131/9594 | 0.00724 | 5 | Benign | |
| View | 12 | 6715630 | 6715630 | G > C | CHD4 |
NM_001273.2:c.-78-13C>G |
182/9555 | 0.00952 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 7343178 | 7343187 | GAGGTGGAAA > - | PEX5 PEX5 PEX5 PEX5 PEX5 |
NM_001131026.1:c.147+59_147+68del NM_001131025.1:c.147+59_147+68del NM_000319.4:c.147+59_147+68del NM_001131024.1:c.147+59_147+68del NM_001131023.1:c.192+14_192+23del |
77/11383 | 0.00347 | 5 | five_prime_intronic | Benign | |
| View | 12 | 7355269 | 7355269 | T > C | PEX5 PEX5 PEX5 PEX5 PEX5 |
NM_001131026.1:c.815T>C NM_001131025.1:c.815T>C NM_000319.4:c.815T>C NM_001131024.1:c.704T>C NM_001131023.1:c.860T>C |
NP_001124498.1:p.Met272Thr NP_001124497.1:p.Met272Thr NP_000310.2:p.Met272Thr NP_001124496.1:p.Met235Thr NP_001124495.1:p.Met287Thr |
231/11422 | 0.01037 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 12 | 9020600 | 9020600 | G > A | A2ML1 A2ML1 |
ENST00000299698.7:c.3880G>A NR_046256.1:n.2575G>A |
ENSP00000299698.7:p.Val1294Ile |
33/9555 | 0.00173 | 5 | non_synonymous | Benign |
| View | 12 | 9085325 | 9085330 | GCAGCA > - | PHC1 |
NM_004426.2:c.1284_1289del |
NP_004417.2:p.Gln438_Gln439del |
99/9595 | 0.00532 | 5 | in_frame_indel | Benign |
| 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 |
85/9594 | 0.00459 | 5 | non_synonymous | Benign |
| View | 12 | 15130918 | 15130918 | G > C | PDE6H |
NM_006205.2:c.-29G>C |
35/9555 | 0.00183 | 5 | Benign | ||
| View | 12 | 21355489 | 21355489 | C > G | SLCO1B1 |
NM_006446.4:c.1200C>G |
NP_006437.3:p.Phe400Leu |
88/10129 | 0.00469 | 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 |
27/9595 | 0.00141 | 5 | Benign | |
| View | 12 | 48369407 | 48369407 | A > C | COL2A1 COL2A1 |
NM_033150.2:c.3391-19T>G NM_001844.4:c.3598-19T>G |
25/9556 | 0.00131 | 5 | three_prime_flank | Benign | |
| View | 12 | 49420078 | 49420078 | C > T | KMT2D |
NM_003482.3:c.15671G>A |
NP_003473.3:p.Arg5224His |
3/9594 | 0.00016 | 5 | non_synonymous | Benign |
| View | 12 | 49433848 | 49433848 | C > T | KMT2D |
NM_003482.3:c.7705G>A |
NP_003473.3:p.Gly2569Ser |
20/9594 | 0.00104 | 5 | non_synonymous | Benign |
| View | 12 | 49433883 | 49433883 | G > A | KMT2D |
NM_003482.3:c.7670C>T |
NP_003473.3:p.Pro2557Leu |
163/9594 | 0.00849 | 5 | non_synonymous | Benign |
| View | 12 | 49434924 | 49434924 | G > A | KMT2D |
NM_003482.3:c.6629C>T |
NP_003473.3:p.Pro2210Leu |
36/9594 | 0.00188 | 5 | non_synonymous | Benign |
| View | 12 | 49445190 | 49445216 | del > - | KMT2D |
NM_003482.3:c.2250_2276del |
NP_003473.3:p.Arg755_Pro-4015del |
30/9594 | 0.00167 | 5 | in_frame_indel | Benign |
| View | 12 | 49445392 | 49445392 | G > T | KMT2D |
NM_003482.3:c.2074C>A |
NP_003473.3:p.Pro692Thr |
85/9594 | 0.00443 | 5 | non_synonymous | Benign |
| View | 12 | 49445526 | 49445526 | G > T | KMT2D |
NM_003482.3:c.1940C>A |
NP_003473.3:p.Pro647Gln |
10/9594 | 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 |
31/9594 | 0.00172 | 5 | non_synonymous | Benign |
| View | 12 | 52965165 | 52965165 | A > G | KRT74 |
NM_175053.3:c.821T>C |
NP_778223.2:p.Phe274Ser |
18/9594 | 0.00094 | 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 |
46/9594 | 0.0025 | 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 |
158/9594 | 0.00823 | 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 |
72/9594 | 0.00375 | 5 | non_synonymous | Benign |
| View | 12 | 88483274 | 88483274 | A > - | CEP290 |
ENST00000552810.1:c.3574-9del |
62/11422 | 0.00512 | 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 |
82/9594 | 0.00433 | 5 | five_prime_intronic | Benign | |
| View | 12 | 103352174 | 103352175 | - > GCAGCAGCAGCA | ASCL1 |
NM_004316.3:c.175_186dupCAGCAGCAGCAG |
NP_004307.2:p.Gln59_Gln62dup |
79/9594 | 0.00412 | 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 |
144/9594 | 0.0075 | 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 |
98/9594 | 0.00526 | 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 |
192/9594 | 0.01053 | 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 |
29/9594 | 0.00151 | 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 |
103/9594 | 0.00547 | 5 | Benign | |
| View | 12 | 116445451 | 116445451 | A > - | MED13L |
NM_015335.4:c.2013-10del |
158/9594 | 0.00839 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 116445451 | 116445452 | - > A | MED13L |
NM_015335.4:c.2013-10dupT |
97/9594 | 0.00521 | 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 |
222/10294 | 0.01127 | 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 |
488/9555 | 0.0258 | 5 | polypyrimidine_tract | Benign | |
| View | 12 | 124221796 | 124221796 | G > A | ATP6V0A2 |
NM_012463.3:c.1016G>A |
NP_036595.2:p.Arg339His |
233/11422 | 0.01029 | 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 |
215/11422 | 0.0095 | 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 |
99/9594 | 0.00537 | 5 | five_prime_flank | Benign | |
| View | 13 | 20763341 | 20763341 | C > T | GJB2 |
NM_004004.5:c.380G>A |
NP_003995.2:p.Arg127His |
88/11422 | 0.00407 | 5 | Benign | |
| View | 13 | 20763735 | 20763735 | G > A | GJB2 |
NM_004004.5:c.-15C>T |
93/11383 | 0.0043 | 5 | Benign | ||
| View | 13 | 20763754 | 20763754 | G > A | GJB2 |
NM_004004.5:c.-22-12C>T |
455/11384 | 0.02192 | 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 |
158/11422 | 0.007 | 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 |
92/11422 | 0.00407 | 5 | Benign |