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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 18 | 59828406 | 59828406 | C > A | PIGN PIGN |
NM_012327.5:c.181G>T NM_176787.4:c.181G>T |
NP_036459.1:p.Glu61Ter NP_789744.1:p.Glu61Ter |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 19 | 852978 | 852978 | C > T | ELANE |
NM_001972.2:c.170C>T |
NP_001963.1:p.Ala57Val |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 19 | 1399807 | 1399808 | - > GGGGCCCAGTCCC | GAMT GAMT |
NM_138924.2:c.299_311dupGGGACTGGGCCCC NM_000156.5:c.299_311dupGGGACTGGGCCCC |
NP_620279.1:p.Arg105GlyfsTer26 NP_000147.1:p.Arg105GlyfsTer26 |
6/8745 | 0.00034 | 1 | Pathogenic | |
| View | 19 | 13008527 | 13008527 | G > A | GCDH GCDH GCDH GCDH |
NR_102317.1:n.1474G>A NM_013976.3:c.1093G>A NR_102316.1:n.1256G>A NM_000159.3:c.1093G>A |
NP_039663.1:p.Glu365Lys NP_000150.1:p.Glu365Lys |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 19 | 13008590 | 13008590 | C > T | GCDH GCDH GCDH GCDH |
NR_102317.1:n.1537C>T NM_013976.3:c.1156C>T NR_102316.1:n.1319C>T NM_000159.3:c.1156C>T |
NP_039663.1:p.Arg386Ter NP_000150.1:p.Arg386Ter |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 19 | 13008632 | 13008632 | G > A | GCDH GCDH GCDH GCDH |
NR_102317.1:n.1579G>A NM_013976.3:c.1198G>A NR_102316.1:n.1361G>A NM_000159.3:c.1198G>A |
NP_039663.1:p.Val400Met NP_000150.1:p.Val400Met |
4/8745 | 0.00023 | 1 | Pathogenic | |
| View | 19 | 13010300 | 13010300 | C > T | GCDH GCDH GCDH SYCE2 GCDH |
NR_102317.1:n.1643C>T NM_013976.3:c.1244-214C>T NR_102316.1:n.1425C>T NM_001105578.1:c.613-101G>A NM_000159.3:c.1262C>T |
NP_000150.1:p.Ala421Val |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 19 | 13410109 | 13410110 | - > ACTGGTCCGCTGCTCCCACACGGACTTG | CACNA1A CACNA1A CACNA1A CACNA1A CACNA1A |
NM_000068.3:c.2322_2349dupCAAGTCCGTGTGGGAGCAGCGGACCAGT NM_001127221.1:c.2313_2340dupCAAGTCCGTGTGGGAGCAGCGGACCAGT NM_023035.2:c.2322_2349dupCAAGTCCGTGTGGGAGCAGCGGACCAGT NM_001127222.1:c.2310_2337dupCAAGTCCGTGTGGGAGCAGCGGACCAGT NM_001174080.1:c.2313_2340dupCAAGTCCGTGTGGGAGCAGCGGACCAGT |
NP_000059.3:p.Glu784GlnfsTer10 NP_001120693.1:p.Glu781GlnfsTer10 NP_075461.2:p.Glu784GlnfsTer10 NP_001120694.1:p.Glu780GlnfsTer10 NP_001167551.1:p.Glu781GlnfsTer10 |
7/6955 | 0.0005 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 19 | 38987106 | 38987106 | C > T | RYR1 RYR1 |
NM_001042723.1:c.6721C>T NM_000540.2:c.6721C>T |
NP_001036188.1:p.Arg2241Ter NP_000531.2:p.Arg2241Ter |
5/7144 | 0.00035 | 1 | Pathogenic | |
| View | 19 | 39071079 | 39071079 | C > T | RYR1 RYR1 |
NM_001042723.1:c.14566C>T NM_000540.2:c.14581C>T |
NP_001036188.1:p.Arg4856Cys NP_000531.2:p.Arg4861Cys |
1/7144 | 7.0e-05 | 1 | Pathogenic | |
| View | 19 | 41928275 | 41928275 | G > C | BCKDHA BCKDHA |
NM_000709.3:c.853G>C NM_001164783.1:c.853G>C |
NP_000700.1:p.Ala285Pro NP_001158255.1:p.Ala285Pro |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 19 | 41930487 | 41930487 | T > A | BCKDHA BCKDHA |
NM_000709.3:c.1312T>A NM_001164783.1:c.1309T>A |
NP_000700.1:p.Tyr438Asn NP_001158255.1:p.Tyr437Asn |
5/8745 | 0.00029 | 1 | Pathogenic | |
| View | 19 | 45855805 | 45855805 | T > - | ERCC2 |
NM_000400.3:c.2005del |
NP_000391.1:p.Arg669GlyfsTer40 |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 19 | 45912070 | 45912070 | A > G | ERCC1 CD3EAP ERCC1 |
NM_001983.3:c.*863T>C NM_012099.1:c.844A>G NM_001166049.1:c.*863T>C |
NP_036231.1:p.Thr282Ala |
74/6955 | 0.00575 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Pathogenic |
| View | 19 | 47259533 | 47259533 | C > A | FKRP FKRP |
NM_024301.4:c.826C>A NM_001039885.2:c.826C>A |
NP_077277.1:p.Leu276Ile NP_001034974.1:p.Leu276Ile |
29/8745 | 0.00166 | 1 | Pathogenic | |
| View | 19 | 47983175 | 47983176 | - > ACCGACCACATCTGCAGA | KPTN |
NM_007059.2:c.714_731dupTCTGCAGATGTGGTCGGT |
NP_008990.2:p.Met241_Gln246dup |
9/6955 | 0.00065 | 1 | Pathogenic | |
| View | 19 | 50364929 | 50364930 | - > CGGCT | PNKP |
NM_007254.3:c.1317_1321dupAGCCG |
NP_009185.2:p.Ala441GlufsTer28 |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 2 | 15378794 | 15378794 | C > T | NBAS NBAS |
NM_015909.3:c.5741G>A NR_052013.2:n.5785G>A |
NP_056993.2:p.Arg1914His |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 2 | 15601846 | 15601846 | G > A | NBAS NBAS |
NM_015909.3:c.2167C>T NR_052013.2:n.2211C>T |
NP_056993.2:p.Gln723Ter |
2/6955 | 0.00014 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 2 | 28999810 | 28999810 | C > G | PPP1CB PPP1CB |
NM_206876.1:c.146C>G NM_002709.2:c.146C>G |
NP_996759.1:p.Pro49Arg NP_002700.1:p.Pro49Arg |
1/6916 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 39249915 | 39249915 | T > C | SOS1 |
NM_005633.3:c.1654A>G |
NP_005624.2:p.Arg552Gly |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 71901320 | 71901320 | G > A | DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF DYSF |
NM_001130455.1:c.5671-7G>A NM_001130979.1:c.5761-7G>A NM_001130978.1:c.5731-7G>A NM_003494.3:c.5668-7G>A NM_001130980.1:c.5719-7G>A NM_001130987.1:c.5785-7G>A NM_001130977.1:c.5689-7G>A NM_001130985.1:c.5722-7G>A NM_001130976.1:c.5626-7G>A NM_001130986.1:c.5629-7G>A NM_001130983.1:c.5734-7G>A NM_001130984.1:c.5692-7G>A NM_001130981.1:c.5782-7G>A NM_001130982.1:c.5764-7G>A |
2/6955 | 0.00014 | 1 | Pathogenic | ||
| View | 2 | 73118535 | 73118535 | C > T | SPR |
NM_003124.4:c.655C>T |
NP_003115.1:p.Arg219Ter |
2/6955 | 0.00022 | 1 | Pathogenic | |
| View | 2 | 145147511 | 145147511 | C > A | ZEB2 ZEB2 |
NM_001171653.1:c.3080G>T NM_014795.3:c.3152G>T |
NP_001165124.1:p.Gly1027Val NP_055610.1:p.Gly1051Val |
1/7607 | 7.0e-05 | 1 | non_synonymous | Pathogenic |
| View | 2 | 145157639 | 145157639 | T > - | ZEB2 ZEB2 |
NM_001171653.1:c.1043del NM_014795.3:c.1115del |
NP_001165124.1:p.Lys348SerfsTer24 NP_055610.1:p.Lys372SerfsTer24 |
1/7607 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 145274844 | 145274844 | C > - | ZEB2 ZEB2 ZEB2 |
NR_033258.1:n.595+1del NM_001171653.1:c.73+1del NM_014795.3:c.73+1del |
2/7607 | 0.00013 | 1 | Pathogenic | ||
| View | 2 | 152408252 | 152408252 | C > T | NEB NEB NEB |
ENST00000409198.1:c.14841G>A ENST00000427231.2:c.19944G>A ENST00000397345.3:c.19944G>A |
ENSP00000386259.1:p.Ser4947= ENSP00000416578.2:p.Ser6648= ENSP00000380505.3:p.Ser6648= |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 2 | 163138034 | 163138034 | T > C | IFIH1 |
NM_022168.3:c.1328A>G |
NP_071451.2:p.Asp443Gly |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 2 | 166245193 | 166245193 | G > A | SCN2A SCN2A SCN2A |
NM_001040143.1:c.4877G>A NM_001040142.1:c.4877G>A NM_021007.2:c.4877G>A |
NP_001035233.1:p.Arg1626Gln NP_001035232.1:p.Arg1626Gln NP_066287.2:p.Arg1626Gln |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 166894396 | 166894396 | G > A | SCN1A SCN1A SCN1A SCN1A |
NM_001202435.1:c.2836C>T NM_006920.4:c.2803C>T NM_001165963.1:c.2836C>T NM_001165964.1:c.2752C>T |
NP_001189364.1:p.Arg946Cys NP_008851.3:p.Arg935Cys NP_001159435.1:p.Arg946Cys NP_001159436.1:p.Arg918Cys |
1/7166 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 179477204 | 179477204 | A > T | TTN TTN TTN TTN TTN TTN TTN-AS1 |
NM_133437.3:c.23429T>A NM_001267550.1:c.50048T>A NM_001256850.1:c.45125T>A NM_003319.4:c.22853T>A NM_133378.4:c.42344T>A NM_133432.3:c.23228T>A NR_038271.1:n.783-1558A>T |
NP_597681.3:p.Ile7810Asn NP_001254479.1:p.Ile16683Asn NP_001243779.1:p.Ile15042Asn NP_003310.4:p.Ile7618Asn NP_596869.4:p.Ile14115Asn NP_597676.3:p.Ile7743Asn |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 2 | 189872665 | 189872665 | G > A | COL3A1 |
ENST00000304636.3:c.3417+1G>A |
1/6955 | 7.0e-05 | 1 | Pathogenic | ||
| View | 2 | 191155151 | 191155151 | T > C | HIBCH HIBCH |
NM_198047.2:c.365A>G NM_014362.3:c.365A>G |
NP_932164.1:p.Tyr122Cys NP_055177.2:p.Tyr122Cys |
1/8745 | 0.00011 | 1 | Pathogenic | |
| View | 2 | 191851647 | 191851647 | G > A | STAT1 STAT1 |
NM_007315.3:c.1154C>T NM_139266.2:c.1154C>T |
NP_009330.1:p.Thr385Met NP_644671.1:p.Thr385Met |
1/8745 | 6.0e-05 | 1 | Pathogenic | |
| View | 2 | 203242245 | 203242245 | G > A | BMPR2 |
NM_001204.6:c.48G>A |
NP_001195.2:p.Trp16Ter |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 207009733 | 207009733 | T > C | NDUFS1 NDUFS1 NDUFS1 NDUFS1 NDUFS1 |
NM_001199983.1:c.584A>G NM_001199982.1:c.422A>G NM_001199981.1:c.647A>G NM_005006.6:c.755A>G NM_001199984.1:c.797A>G |
NP_001186912.1:p.Asp195Gly NP_001186911.1:p.Asp141Gly NP_001186910.1:p.Asp216Gly NP_004997.4:p.Asp252Gly NP_001186913.1:p.Asp266Gly |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 2 | 219525876 | 219525876 | C > T | BCS1L BCS1L BCS1L BCS1L BCS1L |
NM_001079866.1:c.166C>T NM_004328.4:c.166C>T NM_001257344.1:c.166C>T NM_001257343.1:c.166C>T NM_001257342.1:c.166C>T |
NP_001073335.1:p.Arg56Ter NP_004319.1:p.Arg56Ter NP_001244273.1:p.Arg56Ter NP_001244272.1:p.Arg56Ter NP_001244271.1:p.Arg56Ter |
2/8745 | 0.00011 | 1 | Pathogenic | |
| View | 2 | 228560811 | 228560811 | T > C | SLC19A3 |
NM_025243.3:c.980-14A>G |
3/6916 | 0.00022 | 1 | Pathogenic | ||
| View | 2 | 238256455 | 238256455 | G > A | COL6A3 COL6A3 COL6A3 |
NM_004369.3:c.7024C>T NM_057166.4:c.5203C>T NM_057167.3:c.6406C>T |
NP_004360.2:p.Arg2342Ter NP_476507.3:p.Arg1735Ter NP_476508.2:p.Arg2136Ter |
2/7607 | 0.00013 | 1 | Pathogenic | |
| View | 2 | 241813412 | 241813412 | T > C | AGXT |
NM_000030.2:c.613T>C |
NP_000021.1:p.Ser205Pro |
2/6955 | 0.00014 | 1 | Pathogenic | |
| View | 20 | 3899342 | 3899342 | G > A | PANK2 PANK2 PANK2 |
NM_153640.2:c.688G>A NM_024960.4:c.688G>A NM_153638.2:c.1561G>A |
NP_705904.1:p.Gly230Arg NP_079236.3:p.Gly230Arg NP_705902.2:p.Gly521Arg |
10/8745 | 0.00057 | 1 | Pathogenic | |
| View | 20 | 10653347 | 10653347 | A > G | JAG1 |
NM_000214.2:c.387+2T>C |
1/6955 | 7.0e-05 | 1 | Pathogenic | ||
| View | 20 | 32881889 | 32881889 | G > A | AHCY AHCY |
NM_000687.2:c.293C>T NM_001161766.1:c.209C>T |
NP_000678.1:p.Pro98Leu NP_001155238.1:p.Pro70Leu |
3/6955 | 0.00022 | 1 | Pathogenic | |
| View | 20 | 57478763 | 57478763 | G > A | GNAS GNAS GNAS GNAS GNAS GNAS GNAS GNAS |
NM_001077488.2:c.352G>A NM_016592.2:c.*255G>A NM_001077489.2:c.304G>A NM_001077490.1:c.*210G>A NM_000516.4:c.349G>A NM_080426.2:c.307G>A NM_080425.2:c.2278G>A NR_003259.1:n.439G>A |
NP_001070956.1:p.Val118Met NP_001070957.1:p.Val102Met NP_000507.1:p.Val117Met NP_536351.1:p.Val103Met NP_536350.2:p.Val760Met |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 20 | 62044879 | 62044879 | C > T | KCNQ2 KCNQ2 KCNQ2 KCNQ2 |
NM_004518.4:c.1603G>A NM_172108.3:c.1594G>A NM_172107.2:c.1687G>A NM_172106.1:c.1633G>A |
NP_004509.2:p.Asp535Asn NP_742106.1:p.Asp532Asn NP_742105.1:p.Asp563Asn NP_742104.1:p.Asp545Asn |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 20 | 62070997 | 62070997 | G > A | KCNQ2 KCNQ2 KCNQ2 KCNQ2 KCNQ2 |
NM_004518.4:c.881C>T NM_172108.3:c.881C>T NM_172107.2:c.881C>T NM_172109.1:c.881C>T NM_172106.1:c.881C>T |
NP_004509.2:p.Ala294Val NP_742106.1:p.Ala294Val NP_742105.1:p.Ala294Val NP_742107.1:p.Ala294Val NP_742104.1:p.Ala294Val |
1/6955 | 7.0e-05 | 1 | Pathogenic | |
| View | 21 | 38128847 | 38128847 | G > A | HLCS HLCS HLCS |
NM_001242785.1:c.2005C>T NM_000411.6:c.2005C>T NM_001242784.1:c.2005C>T |
NP_001229714.1:p.His669Tyr NP_000402.3:p.His669Tyr NP_001229713.1:p.His669Tyr |
1/8745 | 0.00011 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 21 | 47409043 | 47409043 | G > A | COL6A1 |
NM_001848.2:c.850G>A |
NP_001839.2:p.Gly284Arg |
1/7607 | 7.0e-05 | 1 | Pathogenic | |
| View | 22 | 24810530 | 24810530 | G > A | SPECC1L SPECC1L-ADORA2A SPECC1L SPECC1L |
ENST00000541492.1:c.3176G>A NR_103546.1:n.3723G>A ENST00000314328.9:c.3293G>A ENST00000437398.1:c.3293G>A |
ENSP00000439633.1:p.Arg1059Gln ENSP00000325785.8:p.Arg1098Gln ENSP00000393363.1:p.Arg1098Gln |
1/6955 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 22 | 24919586 | 24919586 | G > A | UPB1 |
NM_016327.2:c.917-1G>A |
30/6955 | 0.00216 | 1 | Pathogenic |