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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 | 6412854 | 6412854 | C > T | SMPD1 SMPD1 |
NM_000543.4:c.559C>T NM_001007593.2:c.556C>T |
NP_000534.3:p.Pro187Ser NP_001007594.2:p.Pro186Ser |
83/10521 | 0.00409 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 6413182 | 6413182 | G > A | SMPD1 SMPD1 |
NM_000543.4:c.887G>A NM_001007593.2:c.884G>A |
NP_000534.3:p.Arg296Gln NP_001007594.2:p.Arg295Gln |
79/10521 | 0.00394 | 5 | Benign | |
| View | 11 | 6636668 | 6636668 | C > T | TPP1 |
NM_000391.3:c.1266+5G>A |
123/10521 | 0.00604 | 5 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | Benign | |
| View | 11 | 6638938 | 6638938 | T > C | TPP1 |
NM_000391.3:c.299A>G |
NP_000382.3:p.Gln100Arg |
68/10521 | 0.00333 | 5 | Benign | |
| View | 11 | 6648332 | 6648332 | T > A | DCHS1 |
ENST00000299441.3:c.5938A>T |
ENSP00000299441.3:p.Thr1980Ser |
72/8685 | 0.0042 | 5 | non_synonymous | Benign |
| View | 11 | 7060977 | 7060977 | A > T | NLRP14 |
NM_176822.3:c.322A>T |
NP_789792.1:p.Lys108Ter |
89/8685 | 0.00524 | 1 | Benign | |
| View | 11 | 9871781 | 9871784 | GATT > - | SBF2 |
NM_030962.3:c.2611-19_2611-16del |
117/8647 | 0.00694 | 5 | three_prime_flank | Benign | |
| View | 11 | 10521644 | 10521644 | T > G | AMPD3 AMPD3 AMPD3 AMPD3 AMPD3 |
NM_001025389.1:c.1569T>G NM_001025390.1:c.1590T>G NM_001172430.1:c.1569T>G NM_001172431.1:c.1092T>G NM_000480.2:c.1596T>G |
NP_001020560.1:p.Phe523Leu NP_001020561.1:p.Phe530Leu NP_001165901.1:p.Phe523Leu NP_001165902.1:p.Phe364Leu NP_000471.1:p.Phe532Leu |
13/8685 | 0.00075 | 5 | non_synonymous | Benign |
| View | 11 | 17663382 | 17663382 | C > A | OTOG |
NM_001277269.1:c.8227-12C>A |
72/8637 | 0.00428 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 26463582 | 26463582 | C > T | ANO3 |
NM_031418.2:c.164C>T |
NP_113606.2:p.Ser55Phe |
116/8685 | 0.00679 | 5 | non_synonymous | Benign |
| View | 11 | 34981990 | 34981990 | G > A | PDHX PDHX PDHX |
NM_001166158.1:c.342+12837G>A NM_003477.2:c.566G>A NM_001135024.1:c.521G>A |
NP_003468.2:p.Arg189His NP_001128496.1:p.Arg174His |
58/10521 | 0.00276 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 36595760 | 36595760 | C > A | RAG1 |
ENST00000299440.5:c.906C>A |
ENSP00000299440.5:p.Asp302Glu |
152/10521 | 0.00746 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 44129386 | 44129386 | A > G | EXT2 EXT2 EXT2 |
NM_000401.3:c.223A>G NM_001178083.1:c.124A>G NM_207122.1:c.124A>G |
NP_000392.3:p.Met75Val NP_001171554.1:p.Met42Val NP_997005.1:p.Met42Val |
64/8686 | 0.0038 | 5 | non_synonymous | 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 |
145/10521 | 0.00689 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | 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 |
79/8685 | 0.00466 | 5 | Benign | |
| View | 11 | 66287196 | 66287196 | G > A | BBS1 |
NM_024649.4:c.700G>A |
NP_078925.3:p.Glu234Lys |
163/8685 | 0.00967 | 5 | Benign | |
| View | 11 | 67807143 | 67807144 | - > C | TCIRG1 |
ENST00000265686.3:c.-5+560dupC |
799/4665 | 0.17106 | 5 | ClinVar Benign variant | Benign | |
| View | 11 | 67813930 | 67813930 | A > G | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1166-970A>G ENST00000532635.1:c.518-970A>G |
827/10485 | 0.07039 | 5 | ClinVar Benign variant | 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= |
10224/10521 | 0.96402 | 5 | ClinVar Benign variant | 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 |
136/10521 | 0.0067 | 5 | Common ExAC MAF original cat: TYPE_3 - in_frame_indel | Benign |
| View | 11 | 67926515 | 67926515 | T > C | KMT5B |
ENST00000304363.4:c.1298A>G |
ENSP00000305899.4:p.Asn433Ser |
19/8685 | 0.00109 | 5 | non_synonymous | Benign |
| View | 11 | 70821059 | 70821059 | G > A | SHANK2 |
NM_012309.3:c.520C>T |
NP_036441.2:p.Arg174Cys |
113/8685 | 0.00668 | 5 | Benign | |
| View | 11 | 70858151 | 70858151 | G > A | SHANK2 |
NM_012309.3:c.207+15C>T |
32/8646 | 0.00185 | 5 | five_prime_intronic | Benign | |
| View | 11 | 73753271 | 73753272 | - > A | C2CD3 |
NM_015531.4:c.5496-6dupT |
16/8685 | 0.00092 | 5 | polypyrimidine_tract | 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 |
112/10482 | 0.00544 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | 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 |
108/10521 | 0.00537 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 108114727 | 108114727 | G > C | ATM |
ENST00000278616.4:c.544G>C |
ENSP00000278616.4:p.Val182Leu |
51/10521 | 0.00247 | 5 | Benign | |
| View | 11 | 108121413 | 108121413 | T > - | ATM |
ENST00000278616.4:c.1236-3del |
177/10483 | 0.00844 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 108121733 | 108121733 | G > A | ATM |
ENST00000278616.4:c.1541G>A |
ENSP00000278616.4:p.Gly514Asp |
115/10521 | 0.00551 | 5 | Benign | |
| View | 11 | 108122592 | 108122592 | C > G | ATM |
ENST00000278616.4:c.1636C>G |
ENSP00000278616.4:p.Leu546Val |
71/10521 | 0.00347 | 5 | Benign | |
| View | 11 | 108138045 | 108138045 | C > T | ATM |
ENST00000278616.4:c.2614C>T |
ENSP00000278616.4:p.Pro872Ser |
62/10521 | 0.00299 | 5 | Benign | |
| View | 11 | 108151707 | 108151708 | - > T | ATM |
ENST00000278616.4:c.3403-15dupT |
26/10482 | 0.00129 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 108159732 | 108159732 | C > T | ATM |
ENST00000278616.4:c.4138C>T |
ENSP00000278616.4:p.His1380Tyr |
165/10521 | 0.00789 | 5 | Benign | |
| View | 11 | 111897031 | 111897032 | - > T | DLAT |
NM_001931.4:c.381+22dupT |
6/8685 | 0.00035 | 5 | five_prime_intronic | 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 |
155/8685 | 0.0091 | 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 |
11/8685 | 0.00069 | 5 | non_synonymous | 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 |
94/8685 | 0.00541 | 5 | non_synonymous | 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 |
24/8685 | 0.00138 | 5 | non_synonymous | Benign |
| View | 11 | 119145667 | 119145667 | A > G | CBL |
NM_005188.3:c.869+4A>G |
97/8685 | 0.0057 | 5 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | 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 |
151/8685 | 0.00904 | 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 |
172/10521 | 0.00827 | 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 |
271/10521 | 0.01388 | 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 |
95/8874 | 0.00552 | 5 | Benign | |
| View | 12 | 5153405 | 5153405 | G > T | KCNA5 |
NM_002234.3:c.92G>T |
NP_002225.2:p.Gly31Val |
84/8685 | 0.00489 | 5 | non_synonymous | Benign |
| View | 12 | 6145649 | 6145649 | A > T | VWF |
ENST00000261405.5:c.2451T>A |
ENSP00000261405.5:p.His817Gln |
162/8685 | 0.01031 | 5 | Benign | |
| View | 12 | 6715630 | 6715630 | G > C | CHD4 |
NM_001273.2:c.-78-13C>G |
151/8646 | 0.00873 | 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 |
72/10482 | 0.00353 | 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 |
213/10521 | 0.01041 | 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 |
26/8646 | 0.0015 | 5 | non_synonymous | Benign |
| View | 12 | 9085325 | 9085330 | GCAGCA > - | PHC1 |
NM_004426.2:c.1284_1289del |
NP_004417.2:p.Gln438_Gln439del |
94/8686 | 0.00553 | 5 | in_frame_indel | Benign |