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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 13 | 20763582 | 20763582 | C > A | GJB2 |
NM_004004.5:c.139G>T |
NP_003995.2:p.Glu47Ter |
8/14969 | 0.00027 | 1 | Pathogenic | |
| View | 13 | 20763612 | 20763612 | C > T | GJB2 |
NM_004004.5:c.109G>A |
NP_003995.2:p.Val37Ile |
76/14969 | 0.00264 | 1 | Pathogenic | |
| View | 13 | 20763620 | 20763620 | A > G | GJB2 |
NM_004004.5:c.101T>C |
NP_003995.2:p.Met34Thr |
300/14969 | 0.01012 | 1 | Pathogenic | |
| View | 13 | 20763650 | 20763650 | C > T | GJB2 |
NM_004004.5:c.71G>A |
NP_003995.2:p.Trp24Ter |
4/14969 | 0.00013 | 1 | Pathogenic | |
| View | 13 | 20763686 | 20763686 | C > - | GJB2 |
NM_004004.5:c.35del |
NP_003995.2:p.Gly12ValfsTer2 |
276/14969 | 0.00939 | 1 | Pathogenic | |
| View | 13 | 20763686 | 20763686 | C > A | GJB2 |
NM_004004.5:c.35G>T |
NP_003995.2:p.Gly12Val |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 13 | 28494458 | 28494458 | C > - | PDX1 |
NM_000209.3:c.188del |
NP_000200.1:p.Pro63ArgfsTer60 |
3/13144 | 0.00011 | 1 | Pathogenic | |
| View | 13 | 31843415 | 31843415 | G > A | B3GLCT |
NM_194318.3:c.660+1G>A |
23/11986 | 0.00096 | 1 | Pathogenic | ||
| View | 13 | 31891702 | 31891702 | G > C | B3GLCT |
NM_194318.3:c.1065-1G>C |
3/11983 | 0.00013 | 1 | Pathogenic | ||
| View | 13 | 31891772 | 31891772 | C > A | B3GLCT |
NM_194318.3:c.1134C>A |
NP_919299.3:p.Tyr378Ter |
2/13144 | 8.0e-05 | 1 | premature_stop | Pathogenic |
| View | 13 | 32903605 | 32903606 | TG > - | BRCA2 |
ENST00000380152.3:c.658_659del |
ENSP00000369497.3:p.Val220IlefsTer4 |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 13 | 32937506 | 32937506 | G > C | BRCA2 |
ENST00000380152.3:c.8167G>C |
ENSP00000369497.3:p.Asp2723His |
4/13144 | 0.00015 | 1 | Pathogenic | |
| View | 13 | 36903553 | 36903553 | T > - | SPART SPART SPART SPART |
NM_001142295.1:c.1110del NM_001142294.1:c.1110del NM_015087.4:c.1110del NM_001142296.1:c.1110del |
NP_001135767.1:p.Lys370AsnfsTer30 NP_001135766.1:p.Lys370AsnfsTer30 NP_055902.1:p.Lys370AsnfsTer30 NP_001135768.1:p.Lys370AsnfsTer30 |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 13 | 37583420 | 37583420 | G > C | EXOSC8 |
NM_181503.2:c.815G>C |
NP_852480.1:p.Ser272Thr |
130/13144 | 0.00495 | 1 | Pathogenic | |
| View | 13 | 41381515 | 41381515 | G > A | TPTE2P5 TPTE2P5 SLC25A15 |
NR_038259.1:n.452-6655C>T NR_038258.1:n.623-6655C>T NM_014252.3:c.538G>A |
NP_055067.1:p.Glu180Lys |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 13 | 51519581 | 51519581 | G > A | RNASEH2B RNASEH2B |
NM_001142279.2:c.529G>A NM_024570.3:c.529G>A |
NP_001135751.1:p.Ala177Thr NP_078846.2:p.Ala177Thr |
67/14969 | 0.00227 | 1 | Pathogenic | |
| View | 13 | 101844287 | 101844287 | T > C | NALCN |
NM_052867.2:c.1745A>G |
NP_443099.1:p.Tyr582Cys |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 13 | 108861177 | 108861177 | G > A | LIG4 LIG4 LIG4 |
NM_002312.3:c.2440C>T NM_001098268.1:c.2440C>T NM_206937.1:c.2440C>T |
NP_002303.2:p.Arg814Ter NP_001091738.1:p.Arg814Ter NP_996820.1:p.Arg814Ter |
8/14969 | 0.00027 | 1 | Pathogenic | |
| View | 13 | 108861713 | 108861713 | T > - | LIG4 LIG4 LIG4 |
NM_002312.3:c.1904del NM_001098268.1:c.1904del NM_206937.1:c.1904del |
NP_002303.2:p.Lys635ArgfsTer10 NP_001091738.1:p.Lys635ArgfsTer10 NP_996820.1:p.Lys635ArgfsTer10 |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 13 | 108861879 | 108861879 | G > A | LIG4 LIG4 LIG4 |
NM_002312.3:c.1738C>T NM_001098268.1:c.1738C>T NM_206937.1:c.1738C>T |
NP_002303.2:p.Arg580Ter NP_001091738.1:p.Arg580Ter NP_996820.1:p.Arg580Ter |
6/14969 | 0.0002 | 1 | Pathogenic | |
| View | 13 | 113803580 | 113803580 | G > A | F10 |
NM_000504.3:c.1216G>A |
NP_000495.1:p.Gly406Ser |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 13 | 115091444 | 115091444 | T > G | CHAMP1 CHAMP1 CHAMP1 |
NM_032436.2:c.2127T>G NM_001164145.1:c.2127T>G NM_001164144.1:c.2127T>G |
NP_115812.1:p.Tyr709Ter NP_001157617.1:p.Tyr709Ter NP_001157616.1:p.Tyr709Ter |
1/13144 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 14 | 23899016 | 23899016 | C > T | MYH7 |
NM_000257.2:c.1106G>A |
NP_000248.2:p.Arg369Gln |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 14 | 24550680 | 24550680 | A > G | NRL |
NM_006177.3:c.479T>C |
NP_006168.1:p.Leu160Pro |
5/13144 | 0.00019 | 1 | Pathogenic | |
| View | 14 | 24729019 | 24729019 | T > C | TGM1 |
NM_000359.2:c.877-2A>G |
17/13811 | 0.00062 | 1 | Pathogenic | ||
| View | 14 | 24729150 | 24729150 | C > T | TGM1 |
NM_000359.2:c.872G>A |
NP_000350.1:p.Gly291Asp |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 14 | 24729165 | 24729165 | C > T | TGM1 |
NM_000359.2:c.857G>A |
NP_000350.1:p.Arg286Gln |
1/14969 | 3.0e-05 | 1 | Pathogenic | |
| View | 14 | 24730982 | 24730982 | G > A | TGM1 |
NM_000359.2:c.427C>T |
NP_000350.1:p.Arg143Cys |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 29237285 | 29237285 | G > A | FOXG1 |
NM_005249.4:c.800G>A |
NP_005240.3:p.Gly267Asp |
1/13843 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 14 | 50628269 | 50628269 | G > C | SOS2 |
NM_006939.2:c.1127C>G |
NP_008870.2:p.Thr376Ser |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 14 | 50768850 | 50768850 | T > C | L2HGDH |
NM_024884.2:c.293A>G |
NP_079160.1:p.His98Arg |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 58899157 | 58899157 | G > - | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.392del NM_001244189.1:c.428del NM_001244190.1:c.347del NM_001244191.1:c.137del NM_001244192.1:c.137del |
NP_055564.3:p.Arg131LysfsTer4 NP_001231118.1:p.Arg143LysfsTer4 NP_001231119.1:p.Arg116LysfsTer4 NP_001231120.1:p.Arg46LysfsTer4 NP_001231121.1:p.Arg46LysfsTer4 |
103/13105 | 0.00397 | 1 | Pathogenic | |
| View | 14 | 58923419 | 58923419 | G > C | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.1254-1G>C NM_001244189.1:c.1413-1G>C NM_001244190.1:c.1209-1G>C NM_001244191.1:c.999-1G>C NM_001244192.1:c.1122-1G>C NM_001244193.1:c.834-1G>C |
7/11944 | 0.00029 | 1 | Pathogenic | ||
| View | 14 | 61446301 | 61446304 | TATT > - | TRMT5 |
NM_020810.2:c.312_315del |
NP_065861.2:p.Ile105SerfsTer4 |
25/13105 | 0.00095 | 1 | Pathogenic | |
| View | 14 | 68191923 | 68191923 | C > A | RDH12 |
NM_152443.2:c.295C>A |
NP_689656.2:p.Leu99Ile |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 76429687 | 76429687 | G > A | TGFB3 |
NM_003239.2:c.898C>T |
NP_003230.1:p.Arg300Trp |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 81610039 | 81610039 | G > A | TSHR |
NM_000369.2:c.1637G>A |
NP_000360.2:p.Trp546Ter |
6/13144 | 0.00023 | 1 | Pathogenic | |
| View | 14 | 88431926 | 88431926 | T > C | GALC GALC |
ENST00000261304.2:c.956A>G ENST00000393569.2:c.878A>G |
ENSP00000261304.2:p.Tyr319Cys ENSP00000377199.2:p.Tyr293Cys |
11/14969 | 0.00037 | 1 | Pathogenic | |
| View | 14 | 88442826 | 88442826 | T > A | GALC GALC |
ENST00000261304.2:c.628A>T ENST00000393569.2:c.550A>T |
ENSP00000261304.2:p.Arg210Ter ENSP00000377199.2:p.Arg184Ter |
1/14969 | 3.0e-05 | 1 | Pathogenic | |
| View | 14 | 88459314 | 88459314 | C > G | GALC GALC |
ENST00000261304.2:c.195G>C ENST00000393569.2:c.117+413G>C |
ENSP00000261304.2:p.Gly65= |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 14 | 88883104 | 88883104 | T > A | SPATA7 SPATA7 |
NM_001040428.3:c.192T>A NM_018418.4:c.288T>A |
NP_001035518.1:p.Cys64Ter NP_060888.2:p.Cys96Ter |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 92482073 | 92482073 | G > A | TRIP11 |
NM_004239.3:c.790C>T |
NP_004230.2:p.Arg264Ter |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 14 | 102469031 | 102469031 | G > A | DYNC1H1 |
NM_001376.4:c.4700G>A |
NP_001367.2:p.Arg1567Gln |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 14 | 105834449 | 105834449 | G > A | PACS2 PACS2 PACS2 |
NM_001243127.1:c.424G>A NM_015197.3:c.625G>A NM_001100913.2:c.625G>A |
NP_001230056.1:p.Glu142Lys NP_056012.2:p.Glu209Lys NP_001094383.2:p.Glu209Lys |
1/13105 | 4.0e-05 | 1 | Pathogenic | |
| View | 15 | 25584329 | 25584330 | TC > - | UBE3A UBE3A UBE3A |
NM_130839.2:c.2573_2574del NM_130838.1:c.2513_2514del NM_000462.3:c.2582_2583del |
NP_570854.1:p.Arg858IlefsTer22 NP_570853.1:p.Arg838IlefsTer22 NP_000453.2:p.Arg861IlefsTer22 |
1/13843 | 4.0e-05 | 1 | Pathogenic | |
| View | 15 | 25615817 | 25615817 | G > A | UBE3A UBE3A UBE3A |
NM_130839.2:c.1504C>T NM_130838.1:c.1444C>T NM_000462.3:c.1513C>T |
NP_570854.1:p.Arg502Ter NP_570853.1:p.Arg482Ter NP_000453.2:p.Arg505Ter |
1/13843 | 4.0e-05 | 1 | Pathogenic | |
| View | 15 | 28228529 | 28228529 | T > C | OCA2 |
NM_000275.2:c.1465A>G |
NP_000266.2:p.Asn489Asp |
18/13144 | 0.00068 | 1 | Pathogenic | |
| View | 15 | 28230247 | 28230247 | C > T | OCA2 |
NM_000275.2:c.1327G>A |
NP_000266.2:p.Val443Ile |
158/13144 | 0.00605 | 1 | Pathogenic | |
| View | 15 | 40707653 | 40707653 | C > T | IVD IVD |
NM_002225.3:c.941C>T NM_001159508.1:c.851C>T |
NP_002216.2:p.Ala314Val NP_001152980.1:p.Ala284Val |
24/14969 | 0.00087 | 1 | Pathogenic | |
| View | 15 | 43695895 | 43695895 | G > T | TUBGCP4 |
NM_014444.2:c.1746G>T |
NP_055259.2:p.Leu582= |
17/13144 | 0.00065 | 1 | Pathogenic |