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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 17 48271548 48271548 G > T COL1A1 ENST00000225964.5:c.1615-4C>A
34/5771 0.00295 1 Benign
View 17 48272469 48272469 G > C COL1A1 ENST00000225964.5:c.1300-8C>G
135/5771 0.01213 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 17 61683718 61683718 G > A TACO1 NM_016360.3:c.433G>A
NP_057444.2:p.Gly145Ser
26/5119 0.00254 5 non_synonymous Benign
View 17 62028915 62028915 C > T SCN4A NM_000334.4:c.2722G>A
NP_000325.4:p.Glu908Lys
28/5119 0.00273 5 non_synonymous Benign
View 17 62479069 62479069 A > C POLG2 NM_007215.3:c.1158T>G
NP_009146.2:p.Asp386Glu
25/5119 0.00244 4 Benign
View 17 71196139 71196139 C > T COG1 NM_018714.2:c.1049C>T
NP_061184.1:p.Thr350Met
128/6913 0.00926 5 non_synonymous Benign
View 17 72916543 72916543 T > C USH1G NM_173477.2:c.388A>G
NP_775748.2:p.Lys130Glu
128/6913 0.00984 5 Benign
View 17 73831953 73831953 G > A UNC13D NM_199242.2:c.1579C>T
NP_954712.1:p.Arg527Trp
59/6913 0.00427 5 Benign
View 17 78085871 78085871 G > A GAA GAA GAA NM_001079803.1:c.1726G>A
NM_001079804.1:c.1726G>A
NM_000152.3:c.1726G>A
NP_001073271.1:p.Gly576Ser
NP_001073272.1:p.Gly576Ser
NP_000143.2:p.Gly576Ser
82/6913 0.00644 5 Benign
View 17 79495969 79495969 C > T FSCN2 FSCN2 NM_001077182.2:c.412C>T
NM_012418.3:c.412C>T
NP_001070650.1:p.His138Tyr
NP_036550.1:p.His138Tyr
69/5119 0.00674 5 Benign
View 18 10752860 10752860 G > A PIEZO2 NM_022068.2:c.3866C>T
NP_071351.2:p.Ser1289Phe
34/5120 0.00342 5 non_synonymous Benign
View 18 13884685 13884685 A > C MC2R NM_000529.2:c.833T>G
NP_000520.1:p.Phe278Cys
49/5119 0.00488 1 Benign
View 18 31324814 31324814 G > A ASXL3 NM_030632.1:c.5002G>A
NP_085135.1:p.Val1668Met
10/5119 0.00098 5 non_synonymous Benign
View 18 43435523 43435523 A > G EPG5 NM_020964.2:c.7557+15T>C
32/5101 0.00323 5 five_prime_intronic Benign
View 18 44104697 44104697 G > T LOXHD1 LOXHD1 NM_144612.6:c.4714C>A
NM_001145472.2:c.1381C>A
NM_144612.6:c.4714C>A(p.=)
NM_001145472.2:c.1381C>A(p.=)
69/5119 0.00674 5 Benign
View 18 44109144 44109144 C > T LOXHD1 LOXHD1 NM_144612.6:c.4526G>A
NM_001145472.2:c.1193G>A
NP_653213.6:p.Gly1509Glu
NP_001138944.1:p.Gly398Glu
32/5119 0.00313 5 Benign
View 18 57364452 57364452 G > T CCBE1 NM_133459.3:c.123C>A
NP_597716.1:p.Asp41Glu
48/5119 0.00479 5 non_synonymous Benign
View 19 5831634 5831634 G > T FUT6 FUT6 NM_000150.2:c.945C>A
NM_001040701.1:c.945C>A
NP_000141.1:p.Tyr315Ter
NP_001035791.1:p.Tyr315Ter
85/5119 0.0084 1 Benign
View 19 7712708 7712708 G > A STXBP2 STXBP2 STXBP2 STXBP2 NR_073560.1:n.1818G>A
NM_001272034.1:c.*12G>A
NM_006949.3:c.*12G>A
NM_001127396.2:c.*12G>A
94/6895 0.00689 5 Benign
View 19 11102008 11102008 C > T SMARCA4 SMARCA4 SMARCA4 SMARCA4 SMARCA4 SMARCA4 SMARCA4 NM_001128848.1:c.1419+9C>T
NM_001128845.1:c.1419+9C>T
NM_001128846.1:c.1419+9C>T
NM_003072.3:c.1419+9C>T
NM_001128844.1:c.1419+9C>T
NM_001128849.1:c.1419+9C>T
NM_001128847.1:c.1419+9C>T
12/5119 0.00117 5 five_prime_intronic Benign
View 19 11200309 11200309 C > A LDLR LDLR LDLR LDLR LDLR NM_001195800.1:c.67+18C>A
NM_000527.4:c.67+18C>A
NM_001195799.1:c.67+18C>A
NM_001195803.1:c.67+18C>A
NM_001195798.1:c.67+18C>A
29/5101 0.00294 5 Benign
View 19 12760773 12760773 C > T MAN2B1 MAN2B1 NM_000528.3:c.2221G>A
NM_001173498.1:c.2218G>A
NP_000519.2:p.Gly741Arg
NP_001166969.1:p.Gly740Arg
55/6913 0.00427 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 19 12763007 12763007 G > A MAN2B1 MAN2B1 NM_000528.3:c.2006C>T
NM_001173498.1:c.2003C>T
NP_000519.2:p.Pro669Leu
NP_001166969.1:p.Pro668Leu
48/6913 0.00354 5 non_synonymous Benign
View 19 13318690 13318691 - > CTG CACNA1A CACNA1A CACNA1A CACNA1A CACNA1A NM_001127222.1:c.6973_6975dupCAG
NM_001127221.1:c.*185_*187dupCAG
NM_001174080.1:c.*185_*187dupCAG
NM_023035.2:c.6991_6993dupCAG
NM_000068.3:c.*185_*187dupCAG
NP_001120694.1:p.Gln2325dup
NP_075461.2:p.Gln2331dup
11/5119 0.00107 5 in_frame_indel Benign
View 19 15273335 15273335 C > T NOTCH3 NM_000435.2:c.5854G>A
NP_000426.2:p.Val1952Met
100/5119 0.00977 5 non_synonymous Benign
View 19 16593329 16593329 C > T CALR3 NM_145046.4:c.850G>A
NP_659483.2:p.Asp284Asn
21/5119 0.00205 5 non_synonymous Benign
View 19 17953950 17953950 G > C JAK3 NM_000215.3:c.452C>G
NP_000206.2:p.Pro151Arg
87/6913 0.00629 5 Benign
View 19 17994836 17994836 G > A SLC5A5 NM_000453.2:c.1507G>A
NP_000444.1:p.Asp503Asn
43/5119 0.0042 5 non_synonymous Benign
View 19 18174731 18174731 C > T IL12RB1 NM_005535.1:c.1573G>A
NP_005526.1:p.Ala525Thr
61/6913 0.00463 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 19 18271764 18271764 C > T PIK3R2 PIK3R2 NR_073517.1:n.991C>T
ENST00000222254.8:c.451C>T
ENSP00000222254.6:p.Pro151Ser
71/5119 0.00733 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 19 36546015 36546015 C > T WDR62 WDR62 NM_173636.4:c.142C>T
NM_001083961.1:c.142C>T
NP_775907.4:p.Leu48Phe
NP_001077430.1:p.Leu48Phe
115/5119 0.01123 5 non_synonymous Benign
View 19 39914353 39914353 G > A PLEKHG2 NM_022835.2:c.2600-20G>A
28/5101 0.00274 5 three_prime_flank Benign
View 19 41920067 41920067 G > A BCKDHA BCKDHA NM_001164783.1:c.484+5G>A
NM_000709.3:c.484+5G>A
49/6913 0.00369 5 five_prime_flank Benign
View 19 45916903 45916903 C > T ERCC1 ERCC1 ERCC1 NM_001983.3:c.843+32G>A
NM_202001.2:c.875G>A
NM_001166049.1:c.771+32G>A
NP_973730.1:p.Trp292Ter
18/5211 0.00173 2 premature_stop Benign
View 19 48342689 48342689 G > A CRX NM_000554.4:c.365G>A
NP_000545.1:p.Gly122Asp
76/5119 0.00752 5 Benign
View 19 50310427 50310427 G > T FUZ FUZ FUZ NM_025129.4:c.1238C>A
NM_001171937.1:c.1130C>A
NR_033269.1:n.1357C>A
NP_079405.2:p.Ala413Asp
NP_001165408.1:p.Ala377Asp
40/5119 0.004 5 non_synonymous Benign
View 19 51857658 51857658 C > T ETFB ETFB NM_001985.2:c.58-96G>A
NM_001014763.1:c.235G>A
NP_001014763.1:p.Val79Ile
65/6913 0.0047 5 Benign
View 19 54387497 54387497 C > T PRKCG NM_002739.3:c.285C>T
NM_002739.3:c.285C>T(p.=)
106/5119 0.01035 5 Benign
View 19 55667607 55667607 G > A TNNI3 NM_000363.4:c.244C>T
NP_000354.4:p.Pro82Ser
24/5119 0.00244 5 Benign
View 2 10188123 10188123 C > T KLF11 KLF11 KLF11 ENST00000540845.1:c.608C>T
ENST00000535335.1:c.608C>T
ENST00000305883.1:c.659C>T
ENSP00000444690.1:p.Thr203Met
ENSP00000442722.1:p.Thr203Met
ENSP00000307023.1:p.Thr220Met
32/5119 0.00322 5 Benign
View 2 21225597 21225597 A > T APOB ENST00000233242.1:c.12697T>A
ENSP00000233242.1:p.Ser4233Thr
35/5119 0.00342 1 Benign
View 2 21229860 21229860 A > G APOB ENST00000233242.1:c.9880T>C
ENSP00000233242.1:p.Ser3294Pro
34/5119 0.00332 1 Benign
View 2 21232373 21232373 G > T APOB ENST00000233242.1:c.7367C>A
ENSP00000233242.1:p.Ala2456Asp
34/5119 0.00332 1 Benign
View 2 26432662 26432662 G > T HADHA NM_000182.4:c.1072C>A
NP_000173.2:p.Gln358Lys
86/6913 0.00622 5 Benign
View 2 32289031 32289031 C > T SPAST SPAST NM_014946.3:c.131C>T
NM_199436.1:c.131C>T
NP_055761.2:p.Ser44Leu
NP_955468.1:p.Ser44Leu
84/5119 0.0082 4 Benign
View 2 39240646 39240646 C > T SOS1 NM_005633.3:c.2122G>A
NP_005624.2:p.Ala708Thr
32/5119 0.00313 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 2 44126719 44126719 T > C LRPPRC NM_133259.3:c.3595A>G
NP_573566.2:p.Asn1199Asp
41/6913 0.00311 5 non_synonymous Benign
View 2 44190783 44190783 T > C LRPPRC NM_133259.3:c.1432A>G
NP_573566.2:p.Thr478Ala
54/6913 0.00419 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 2 47630353 47630353 C > T MSH2 MSH2 NM_001258281.1:c.-31+39C>T
NM_000251.2:c.23C>T
NP_000242.1:p.Thr8Met
11/5119 0.00107 5 Benign
View 2 50765412 50765412 G > T NRXN1 NRXN1 NM_001135659.1:c.2242C>A
NM_004801.4:c.2122C>A
NP_001129131.1:p.Leu748Ile
NP_004792.1:p.Leu708Ile
76/5119 0.00742 5 Benign
Displaying 200 through 250 of 560 variants