Download: Excel
| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 10 | 97444321 | 97444321 | C > T | TCTN3 |
NM_001143973.1:c.652-935G>A NM_015631.5:c.1030G>A |
NP_056446.4:p.Gly344Arg |
62/5119 | 0.00625 | 4 | non_synonymous | Likely Benign |
| View | 10 | 97453433 | 97453433 | G > A | TCTN3 |
NM_001143973.1:c.224C>T NM_015631.5:c.224C>T |
NP_001137445.1:p.Ala75Val NP_056446.4:p.Ala75Val |
62/5119 | 0.00625 | 4 | non_synonymous | Likely Benign |
| View | 10 | 97983635 | 97983635 | C > A | BLNK |
NM_001258442.1:c.349+3543G>T NM_013314.3:c.472G>T NR_047681.1:n.484+3531G>T NM_001258441.1:c.472G>T NM_001258440.1:c.472G>T NR_047680.1:n.467+3543G>T NM_001114094.1:c.472G>T NR_047683.1:n.590G>T NR_047682.1:n.479+3531G>T |
NP_037446.1:p.Ala158Ser NP_001245370.1:p.Ala158Ser NP_001245369.1:p.Ala158Ser NP_001107566.1:p.Ala158Ser |
74/5120 | 0.00723 | 4 | non_synonymous | Likely Benign |
| View | 10 | 100481427 | 100481427 | C > T | HPSE2 |
NM_001166244.1:c.769G>A NM_001166245.1:c.607G>A NM_021828.4:c.943G>A NM_001166246.1:c.943G>A |
NP_001159716.1:p.Ala257Thr NP_001159717.1:p.Ala203Thr NP_068600.4:p.Ala315Thr NP_001159718.1:p.Ala315Thr |
28/5119 | 0.00283 | 4 | non_synonymous | Likely Benign |
| View | 10 | 101476226 | 101476226 | G > T | COX15 |
NM_004376.5:c.988-8C>A NM_078470.4:c.988-8C>A |
5/6913 | 0.00036 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 10 | 104359297 | 104359297 | G > T | SUFU |
NM_016169.3:c.1018G>T NM_001178133.1:c.1018G>T |
NP_057253.2:p.Ala340Ser NP_001171604.1:p.Ala340Ser |
78/5119 | 0.00772 | 4 | non_synonymous | Likely Benign |
| View | 10 | 111872643 | 111872643 | T > C | ADD3 |
NM_001121.2:c.304T>C NM_016824.3:c.304T>C NM_019903.3:c.304T>C |
NP_001112.2:p.Ser102Pro NP_058432.1:p.Ser102Pro NP_063968.1:p.Ser102Pro |
37/5101 | 0.00372 | 3 | non_synonymous | Likely Benign |
| View | 10 | 112343933 | 112343933 | T > G | SMC3 |
NM_005445.3:c.1092-8T>G |
15/5119 | 0.00147 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 10 | 112360894 | 112360894 | T > A | SMC3 |
NM_005445.3:c.2644+6T>A |
7/5119 | 0.00068 | 3 | five_prime_flank | Likely Benign | |
| View | 10 | 121429462 | 121429462 | A > T | BAG3 |
NM_004281.3:c.280A>T |
NP_004272.2:p.Ile94Phe |
16/5119 | 0.00156 | 4 | Likely Benign | |
| View | 10 | 121436204 | 121436204 | C > T | BAG3 |
NM_004281.3:c.1138C>T |
NP_004272.2:p.Pro380Ser |
5/5119 | 0.00049 | 4 | Likely Benign | |
| View | 10 | 123325158 | 123325158 | G > A | FGFR2 |
NM_001144918.1:c.110-14185C>T NM_001144913.1:c.170C>T NM_001144915.1:c.110-1065C>T NR_073009.1:n.757-14185C>T NM_022970.3:c.170C>T NM_001144916.1:c.110-14185C>T NM_001144919.1:c.110-1065C>T NM_000141.4:c.170C>T NM_001144917.1:c.170C>T NM_023029.2:c.110-1065C>T NM_001144914.1:c.170C>T |
NP_001138385.1:p.Ser57Leu NP_075259.4:p.Ser57Leu NP_000132.3:p.Ser57Leu NP_001138389.1:p.Ser57Leu NP_001138386.1:p.Ser57Leu |
34/5119 | 0.00332 | 4 | non_synonymous | Likely Benign |
| View | 10 | 123353298 | 123353298 | C > T | FGFR2 |
NM_000141.4:c.34G>A NM_001144914.1:c.34G>A NM_001144916.1:c.34G>A NM_001144919.1:c.34G>A NR_073009.1:n.681G>A NM_022970.3:c.34G>A NM_001144915.1:c.34G>A NM_001144918.1:c.34G>A NM_001144913.1:c.34G>A NM_023029.2:c.34G>A NM_001144917.1:c.34G>A |
NP_000132.3:p.Val12Met NP_001138386.1:p.Val12Met NP_001138388.1:p.Val12Met NP_001138391.1:p.Val12Met NP_075259.4:p.Val12Met NP_001138387.1:p.Val12Met NP_001138390.1:p.Val12Met NP_001138385.1:p.Val12Met NP_075418.1:p.Val12Met NP_001138389.1:p.Val12Met |
3/5119 | 0.00029 | 4 | non_synonymous | Likely Benign |
| View | 10 | 131665406 | 131665406 | G > C | EBF3 |
NM_001005463.2:c.1011C>G |
NM_001005463.2:c.1011C>G(p.%3D) |
15/5101 | 0.00147 | 4 | five_prime_exonic | Likely Benign |
| View | 11 | 764414 | 764414 | A > G | TALDO1 |
NM_006755.1:c.962A>G |
NP_006746.1:p.Lys321Arg |
65/5119 | 0.00654 | 4 | non_synonymous | Likely Benign |
| View | 11 | 1775352 | 1775352 | C > T | CTSD |
NM_001909.4:c.844G>A |
NP_001900.1:p.Gly282Arg |
78/6913 | 0.00564 | 4 | non_synonymous | Likely Benign |
| View | 11 | 2592569 | 2592569 | G > A | KCNQ1 |
NM_000218.2:c.619G>A NR_040711.2:n.512G>A |
NP_000209.2:p.Val207Met |
5/5119 | 0.00049 | 4 | Likely Benign | |
| View | 11 | 2906803 | 2906803 | C > T | CDKN1C |
NM_000076.2:c.-84G>A NM_001122630.1:c.-11+61G>A NM_001122631.1:c.-11+61G>A |
70/5101 | 0.00706 | 4 | Likely Benign | ||
| View | 11 | 6415245 | 6415245 | C > T | SMPD1 |
NM_001007593.2:c.1457C>T NM_000543.4:c.1460C>T |
NP_001007594.2:p.Ala486Val NP_000534.3:p.Ala487Val |
68/6913 | 0.00492 | 4 | Likely Benign | |
| View | 11 | 6415704 | 6415704 | C > T | SMPD1 |
NM_001007593.2:c.1760C>T NM_000543.4:c.1763C>T |
NP_001007594.2:p.Thr587Met NP_000534.3:p.Thr588Met |
41/6913 | 0.00318 | 4 | non_synonymous | Likely Benign |
| View | 11 | 6644149 | 6644149 | C > T | DCHS1 |
NM_003737.2:c.8758G>A |
NP_003728.1:p.Val2920Met |
13/5119 | 0.00127 | 4 | non_synonymous | Likely Benign |
| View | 11 | 6661600 | 6661600 | G > T | DCHS1 |
NM_003737.2:c.1245C>A |
NP_003728.1:p.Ser415Arg |
79/5119 | 0.00772 | 4 | non_synonymous | Likely Benign |
| View | 11 | 6662466 | 6662466 | C > T | DCHS1 |
NM_003737.2:c.379G>A |
NP_003728.1:p.Val127Ile |
86/5121 | 0.00859 | 4 | non_synonymous | Likely Benign |
| View | 11 | 6662787 | 6662787 | G > A | DCHS1 |
NM_003737.2:c.58C>T |
NP_003728.1:p.His20Tyr |
2/5119 | 0.0002 | 4 | non_synonymous | Likely Benign |
| View | 11 | 9878045 | 9878045 | C > T | SBF2 |
NM_030962.3:c.2323G>A |
NP_112224.1:p.Gly775Ser |
28/5119 | 0.00273 | 4 | non_synonymous | Likely Benign |
| View | 11 | 10508903 | 10508903 | G > T | AMPD3 |
NM_000480.2:c.958G>T NM_001172431.1:c.454G>T NM_001025389.1:c.931G>T NM_001025390.1:c.952G>T NM_001172430.1:c.931G>T |
NP_000471.1:p.Val320Leu NP_001165902.1:p.Val152Leu NP_001020560.1:p.Val311Leu NP_001020561.1:p.Val318Leu NP_001165901.1:p.Val311Leu |
79/5119 | 0.00772 | 4 | Likely Benign | |
| View | 11 | 17598128 | 17598128 | G > C | OTOG |
NM_001277269.1:c.2548G>C |
NP_001264198.1:p.Gly850Arg |
23/5110 | 0.00225 | 4 | non_synonymous | Likely Benign |
| View | 11 | 17758138 | 17758138 | A > T | KCNC1 |
NM_001112741.1:c.570+19A>T NM_004976.4:c.570+19A>T |
28/5101 | 0.00274 | 4 | five_prime_intronic | Likely Benign | |
| View | 11 | 20622808 | 20622808 | C > G | SLC6A5 |
NM_004211.3:c.137C>G |
NP_004202.2:p.Pro46Arg |
60/5119 | 0.00586 | 4 | non_synonymous | Likely Benign |
| View | 11 | 22296233 | 22296233 | T > G | ANO5 |
NM_213599.2:c.2354T>G NM_001142649.1:c.2351T>G |
NP_998764.1:p.Leu785Arg NP_001136121.1:p.Leu784Arg |
11/5119 | 0.00107 | 4 | non_synonymous | Likely Benign |
| View | 11 | 26587350 | 26587350 | G > C | MUC15 ANO3 |
NM_001135091.1:c.137C>G NM_031418.2:c.1447+6024G>C NM_145650.3:c.56C>G NM_001135092.1:c.137C>G |
NP_001128563.1:p.Ser46Trp NP_663625.2:p.Ser19Trp NP_001128564.1:p.Ser46Trp |
26/5101 | 0.00274 | 4 | non_synonymous | Likely Benign |
| View | 11 | 34999682 | 34999682 | G > C | PDHX |
NM_003477.2:c.976G>C NM_001135024.1:c.931G>C NM_001166158.1:c.343-6435G>C |
NP_003468.2:p.Val326Leu NP_001128496.1:p.Val311Leu |
115/6913 | 0.00832 | 4 | non_synonymous | Likely Benign |
| View | 11 | 44148443 | 44148443 | T > C | EXT2 |
NM_001178083.1:c.1017T>C NM_207122.1:c.1017T>C NM_000401.3:c.1116T>C |
NM_001178083.1:c.1017T>C(p.%3D) NM_207122.1:c.1017T>C(p.%3D) NM_000401.3:c.1116T>C(p.%3D) |
30/5119 | 0.00293 | 4 | Likely Benign | |
| View | 11 | 45931647 | 45931647 | T > G | PEX16 |
ENST00000241041.3:c.1034A>C |
ENSP00000241041.3:p.His345Pro |
44/5119 | 0.0043 | 4 | non_synonymous | Likely Benign |
| View | 11 | 47371449 | 47371449 | C > T | MYBPC3 |
NM_000256.3:c.530G>A |
NP_000247.2:p.Arg177His |
13/5119 | 0.00127 | 4 | Likely Benign | |
| View | 11 | 47433920 | 47433920 | C > G | SLC39A13 |
ENST00000362021.4:c.439C>G ENST00000354884.4:c.439C>G |
ENSP00000354689.4:p.Gln147Glu ENSP00000346956.4:p.Gln147Glu |
28/5119 | 0.00273 | 4 | non_synonymous | Likely Benign |
| View | 11 | 58919451 | 58919451 | T > A | FAM111A |
NM_001142519.1:c.310T>A NM_001142520.1:c.310T>A NM_022074.3:c.310T>A NM_198847.2:c.310T>A NM_001142521.1:c.310T>A |
NP_001135991.1:p.Leu104Ile NP_001135992.1:p.Leu104Ile NP_071357.2:p.Leu104Ile NP_942144.1:p.Leu104Ile NP_001135993.1:p.Leu104Ile |
30/5119 | 0.00293 | 4 | non_synonymous | Likely Benign |
| View | 11 | 61160686 | 61160686 | C > T | TMEM216 |
NM_001173991.2:c.35-17C>T NM_016499.5:c.-149-17C>T NM_001173990.2:c.35-17C>T |
70/5101 | 0.00696 | 4 | three_prime_flank | Likely Benign | |
| View | 11 | 61165269 | 61165269 | C > A | TMEM216 |
NM_016499.5:c.70C>A NM_001173991.2:c.253C>A NM_001173990.2:c.253C>A |
NM_016499.5:c.70C>A(p.%3D) NM_001173991.2:c.253C>A(p.%3D) NM_001173990.2:c.253C>A(p.%3D) |
4/5119 | 0.00039 | 4 | Likely Benign | |
| View | 11 | 62439530 | 62439530 | T > G | UQCC3 |
NM_001085372.2:c.226T>G |
NP_001078841.1:p.Trp76Gly |
8/5101 | 0.00078 | 3 | non_synonymous | Likely Benign |
| View | 11 | 66332089 | 66332089 | G > A | CTSF |
NM_003793.3:c.1261C>T |
NP_003784.2:p.Arg421Trp |
20/5119 | 0.00205 | 4 | non_synonymous | Likely Benign |
| View | 11 | 67379579 | 67379579 | C > - | NDUFV1 |
NM_001166102.1:c.1136-12del NM_007103.3:c.1163-12del |
37/6895 | 0.00268 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 11 | 67810477 | 67810477 | C > T | TCIRG1 |
ENST00000265686.3:c.482C>T ENST00000532635.1:c.-506C>T |
ENSP00000265686.3:p.Pro161Leu |
28/6913 | 0.00203 | 4 | non_synonymous | Likely Benign |
| View | 11 | 71155265 | 71155265 | C > T | DHCR7 |
NM_001360.2:c.99-4G>A NM_001163817.1:c.99-4G>A |
146/6913 | 0.01063 | 4 | Likely Benign | ||
| View | 11 | 72084037 | 72084037 | C > T | CLPB |
NM_001258392.1:c.646+7288G>A NM_001258394.1:c.533G>A NM_001258393.1:c.559+7288G>A NM_030813.4:c.668G>A |
NP_001245323.1:p.Ser178Asn NP_110440.1:p.Ser223Asn |
40/5119 | 0.004 | 4 | non_synonymous | Likely Benign |
| View | 11 | 73796878 | 73796878 | T > C | C2CD3 |
NM_015531.4:c.3695A>G |
NP_056346.3:p.Asn1232Ser |
86/5119 | 0.0086 | 4 | non_synonymous | Likely Benign |
| View | 11 | 76914151 | 76914151 | C > A | MYO7A |
NM_001127180.1:c.5101C>A NM_000260.3:c.5215C>A |
NM_001127180.1:c.5101C>A(p.%3D) NM_000260.3:c.5215C>A(p.%3D) |
24/6913 | 0.00174 | 4 | Likely Benign | |
| View | 11 | 76914260 | 76914260 | T > C | MYO7A |
NM_001127180.1:c.5210T>C NM_000260.3:c.5324T>C |
NP_001120652.1:p.Ile1737Thr NP_000251.3:p.Ile1775Thr |
5/6913 | 0.00036 | 4 | non_synonymous | Likely Benign |
| View | 11 | 76922359 | 76922359 | G > A | MYO7A |
NM_001127180.1:c.6100G>A NM_000260.3:c.6214G>A |
NP_001120652.1:p.Val2034Ile NP_000251.3:p.Val2072Ile |
6/6913 | 0.00043 | 4 | non_synonymous | Likely Benign |
| View | 11 | 99932010 | 99932010 | A > T | CNTN5 |
NM_175566.2:c.825A>T NM_001243270.1:c.1047A>T NM_014361.3:c.1047A>T NM_001243271.1:c.1047A>T |
NP_780775.1:p.Lys275Asn NP_001230199.1:p.Lys349Asn NP_055176.1:p.Lys349Asn NP_001230200.1:p.Lys349Asn |
17/5101 | 0.00176 | 4 | non_synonymous | Likely Benign |