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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 | 47368170 | 47368170 | G > A | MYBPC3 |
NM_000256.3:c.926+8C>T |
18/11983 | 0.00075 | 5 | curation | Benign | |
| View | 11 | 47469654 | 47469654 | A > G | RAPSN RAPSN |
NM_032645.4:c.241T>C NM_005055.4:c.241T>C |
NP_116034.2:p.Phe81Leu NP_005046.2:p.Phe81Leu |
198/14969 | 0.00661 | 5 | curation | Benign |
| View | 11 | 57561543 | 57561543 | A > G | CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 TMX2-CTNND1 |
ENST00000358694.6:c.257A>G ENST00000361332.4:c.257A>G ENST00000530094.1:c.-47A>G ENST00000528232.1:c.-47A>G ENST00000532463.1:c.-47A>G ENST00000399050.4:c.257A>G ENST00000426142.2:c.-47A>G ENST00000532787.1:c.-47A>G ENST00000415361.2:c.-47A>G ENST00000526357.1:c.95A>G ENST00000529873.1:c.95A>G ENST00000428599.2:c.257A>G ENST00000532245.1:c.-36-1506A>G ENST00000532649.1:c.95A>G ENST00000529986.1:c.-47A>G ENST00000528621.1:c.95A>G ENST00000530748.1:c.95A>G ENST00000532844.1:c.95A>G ENST00000361391.6:c.257A>G ENST00000361796.4:c.257A>G ENST00000529526.1:c.95A>G NR_037646.1:n.816A>G |
ENSP00000351527.6:p.Asn86Ser ENSP00000354823.4:p.Asn86Ser ENSP00000382004.4:p.Asn86Ser ENSP00000433334.1:p.Asn32Ser ENSP00000435494.1:p.Asn32Ser ENSP00000413586.2:p.Asn86Ser ENSP00000435379.1:p.Asn32Ser ENSP00000432243.1:p.Asn32Ser ENSP00000436744.1:p.Asn32Ser ENSP00000433276.1:p.Asn32Ser ENSP00000354785.6:p.Asn86Ser ENSP00000354907.4:p.Asn86Ser ENSP00000436323.1:p.Asn32Ser |
19/13144 | 0.00072 | 5 | curation | Benign |
| View | 11 | 58892376 | 58892377 | - > A | FAM111B FAM111B FAM111B |
NM_198947.3:c.816dupA NM_001142704.1:c.726dupA NM_001142703.1:c.726dupA |
NP_945185.1:p.Ala273SerfsTer9 NP_001136176.1:p.Ala243SerfsTer9 NP_001136175.1:p.Ala243SerfsTer9 |
13/13144 | 0.00049 | 5 | frameshift | Benign |
| View | 11 | 59610581 | 59610581 | A > G | GIF |
NM_005142.2:c.290T>C |
NP_005133.2:p.Met97Thr |
191/13144 | 0.0073 | 5 | curation | Benign |
| View | 11 | 61724453 | 61724453 | C > A | BEST1 BEST1 |
NM_001139443.1:c.439C>A NM_004183.3:c.619C>A |
NP_001132915.1:p.Leu147Ile NP_004174.1:p.Leu207Ile |
110/13144 | 0.00426 | 5 | curation | Benign |
| View | 11 | 62393382 | 62393382 | G > A | GANAB GANAB GANAB GANAB GANAB |
NM_198334.2:c.2740C>T NM_198335.3:c.2806C>T NM_001278193.1:c.2398C>T NM_001278194.1:c.2449C>T NM_001278192.1:c.2464C>T |
NP_938148.1:p.Arg914Cys NP_938149.2:p.Arg936Cys NP_001265122.1:p.Arg800Cys NP_001265123.1:p.Arg817Cys NP_001265121.1:p.Arg822Cys |
4/13105 | 0.00015 | 5 | non_synonymous | Benign |
| View | 11 | 64496517 | 64496517 | G > T | RASGRP2 RASGRP2 RASGRP2 |
NM_001098670.1:c.1592-3C>A NM_001098671.1:c.1592-3C>A NM_153819.1:c.1592-3C>A |
155/12009 | 0.00662 | 5 | Benign | ||
| View | 11 | 66287196 | 66287196 | G > A | BBS1 |
NM_024649.4:c.700G>A |
NP_078925.3:p.Glu234Lys |
253/13144 | 0.01004 | 5 | curation | Benign |
| View | 11 | 67807143 | 67807144 | - > C | TCIRG1 |
ENST00000265686.3:c.-5+560dupC |
1829/5628 | 0.32445 | 5 | curation | Benign | |
| View | 11 | 67813930 | 67813930 | A > G | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1166-970A>G ENST00000532635.1:c.518-970A>G |
1827/13774 | 0.11565 | 5 | curation | Benign | |
| View | 11 | 67814979 | 67814979 | G > C | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1245G>C ENST00000532635.1:c.597G>C |
ENSP00000265686.3:p.Leu415= ENSP00000434407.1:p.Leu199= |
14661/14969 | 0.97171 | 5 | curation | Benign |
| View | 11 | 67817991 | 67817992 | - > GGCCTG | TCIRG1 TCIRG1 |
ENST00000265686.3:c.2285_2290dupTGGGCC ENST00000532635.1:c.1637_1642dupTGGGCC |
ENSP00000265686.3:p.Leu762_Gly763dup ENSP00000434407.1:p.Leu546_Gly547dup |
177/14969 | 0.00611 | 5 | curation | Benign |
| View | 11 | 67926515 | 67926515 | T > C | KMT5B |
ENST00000304363.4:c.1298A>G |
ENSP00000305899.4:p.Asn433Ser |
25/13144 | 0.00095 | 5 | curation | Benign |
| View | 11 | 67941365 | 67941365 | G > T | KMT5B KMT5B |
ENST00000401547.2:c.559C>A ENST00000304363.4:c.559C>A |
ENSP00000385965.2:p.Arg187= ENSP00000305899.4:p.Arg187= |
112/13144 | 0.00441 | 5 | Benign | |
| View | 11 | 70821059 | 70821059 | G > A | SHANK2 |
NM_012309.3:c.520C>T |
NP_036441.2:p.Arg174Cys |
192/13144 | 0.00753 | 5 | curation | Benign |
| View | 11 | 70858151 | 70858151 | G > A | SHANK2 |
NM_012309.3:c.207+15C>T |
61/11953 | 0.00259 | 5 | curation | Benign | |
| View | 11 | 73753271 | 73753272 | - > A | C2CD3 |
NM_015531.4:c.5496-6dupT |
44/11991 | 0.00183 | 5 | curation | Benign | |
| View | 11 | 76868309 | 76868310 | - > TGCCCACATTTT | MYO7A MYO7A MYO7A |
NM_000260.3:c.736-15_736-4dupTGCCCACATTTT NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT |
164/13786 | 0.00606 | 5 | curation | Benign | |
| View | 11 | 76910708 | 76910708 | C > T | MYO7A MYO7A |
NM_000260.3:c.4697C>T NM_001127180.1:c.4583C>T |
NP_000251.3:p.Thr1566Met NP_001120652.1:p.Thr1528Met |
148/14969 | 0.00498 | 5 | Benign | |
| View | 11 | 76925733 | 76925733 | G > A | MYO7A MYO7A |
NM_000260.3:c.6640G>A NM_001127180.1:c.6520G>A |
NP_000251.3:p.Gly2214Ser NP_001120652.1:p.Gly2174Ser |
161/14969 | 0.00558 | 5 | curation | Benign |
| View | 11 | 108114727 | 108114727 | G > C | ATM |
ENST00000278616.4:c.544G>C |
ENSP00000278616.4:p.Val182Leu |
92/14969 | 0.00311 | 5 | curation | Benign |
| View | 11 | 108121413 | 108121413 | T > - | ATM |
ENST00000278616.4:c.1236-3del |
489/13833 | 0.01768 | 5 | curation | Benign | |
| View | 11 | 108121733 | 108121733 | G > A | ATM |
ENST00000278616.4:c.1541G>A |
ENSP00000278616.4:p.Gly514Asp |
173/14969 | 0.00585 | 5 | curation | Benign |
| View | 11 | 108122592 | 108122592 | C > G | ATM |
ENST00000278616.4:c.1636C>G |
ENSP00000278616.4:p.Leu546Val |
108/14969 | 0.00367 | 5 | curation | Benign |
| View | 11 | 108124761 | 108124761 | T > C | ATM |
ENST00000278616.4:c.2119T>C |
ENSP00000278616.4:p.Ser707Pro |
274/14969 | 0.00922 | 5 | non_synonymous | Benign |
| View | 11 | 108138045 | 108138045 | C > T | ATM |
ENST00000278616.4:c.2614C>T |
ENSP00000278616.4:p.Pro872Ser |
93/14969 | 0.00314 | 5 | curation | Benign |
| View | 11 | 108141958 | 108141959 | - > T | ATM |
ENST00000278616.4:c.2922-8dupT |
87/13777 | 0.00319 | 5 | curation | Benign | |
| View | 11 | 108151707 | 108151708 | - > T | ATM |
ENST00000278616.4:c.3403-15dupT |
25/13771 | 0.00094 | 5 | curation | Benign | |
| View | 11 | 108159732 | 108159732 | C > T | ATM |
ENST00000278616.4:c.4138C>T |
ENSP00000278616.4:p.His1380Tyr |
229/14969 | 0.00772 | 5 | curation | Benign |
| View | 11 | 111897031 | 111897032 | - > T | DLAT |
NM_001931.4:c.381+22dupT |
26/11992 | 0.00108 | 5 | curation | Benign | |
| View | 11 | 113857661 | 113857661 | G > A | HTR3A HTR3A HTR3A HTR3A |
NM_000869.5:c.1049G>A NM_213621.3:c.1145G>A NR_046363.1:n.1121G>A NM_001161772.2:c.986G>A |
NP_000860.2:p.Arg350His NP_998786.2:p.Arg382His NP_001155244.1:p.Arg329His |
254/13144 | 0.01004 | 5 | curation | Benign |
| View | 11 | 116728913 | 116728913 | G > A | SIK3 |
NM_025164.3:c.2950C>T |
NP_079440.2:p.Arg984Cys |
247/13148 | 0.00955 | 5 | Benign | |
| View | 11 | 117252491 | 117252491 | C > G | CEP164 CEP164 |
NM_014956.4:c.1484C>G NM_001271933.1:c.1493C>G |
NP_055771.4:p.Pro495Arg NP_001258862.1:p.Pro498Arg |
20/13144 | 0.0008 | 5 | curation | Benign |
| View | 11 | 118343378 | 118343378 | G > A | KMT2A KMT2A |
NM_001197104.1:c.1504G>A NM_005933.3:c.1504G>A |
NP_001184033.1:p.Glu502Lys NP_005924.2:p.Glu502Lys |
145/13144 | 0.00552 | 5 | curation | Benign |
| View | 11 | 118373179 | 118373179 | G > A | KMT2A KMT2A |
NM_001197104.1:c.6572G>A NM_005933.3:c.6563G>A |
NP_001184033.1:p.Arg2191Gln NP_005924.2:p.Arg2188Gln |
36/13144 | 0.00137 | 5 | curation | Benign |
| View | 11 | 119145667 | 119145667 | A > G | CBL |
NM_005188.3:c.869+4A>G |
149/11996 | 0.00634 | 5 | curation | Benign | |
| 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 |
225/13144 | 0.00864 | 5 | curation | 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 |
220/13144 | 0.00871 | 5 | curation | 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 |
257/14969 | 0.00865 | 5 | curation | 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 |
406/14969 | 0.01453 | 5 | curation | 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 |
159/13333 | 0.00615 | 5 | curation | Benign |
| View | 12 | 5153405 | 5153405 | G > T | KCNA5 |
NM_002234.3:c.92G>T |
NP_002225.2:p.Gly31Val |
129/13144 | 0.00495 | 5 | curation | Benign |
| View | 12 | 6145649 | 6145649 | A > T | VWF |
ENST00000261405.5:c.2451T>A |
ENSP00000261405.5:p.His817Gln |
243/13144 | 0.00993 | 5 | curation | Benign |
| View | 12 | 6443001 | 6443001 | G > A | TNFRSF1A |
NM_001065.3:c.224C>T |
NP_001056.1:p.Pro75Leu |
185/13144 | 0.00749 | 5 | curation | Benign |
| View | 12 | 6715630 | 6715630 | G > C | CHD4 |
NM_001273.2:c.-78-13C>G |
282/11970 | 0.01182 | 5 | curation | 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 |
114/13784 | 0.00421 | 5 | curation | 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 |
320/14969 | 0.01099 | 5 | curation | Benign |
| View | 12 | 9020600 | 9020600 | G > A | A2ML1 A2ML1 |
ENST00000299698.7:c.3880G>A NR_046256.1:n.2575G>A |
ENSP00000299698.7:p.Val1294Ile |
44/13105 | 0.00168 | 5 | curation | Benign |
| View | 12 | 9085325 | 9085330 | GCAGCA > - | PHC1 |
NM_004426.2:c.1284_1289del |
NP_004417.2:p.Gln438_Gln439del |
138/13145 | 0.0054 | 5 | curation | Benign |