All variants affecting transcripts

320 entries on 4 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

gnomAD MAF     

dbSNP ID     

Segregation     

Zygosity     

ACMG class     

Reference     

DB-ID     

Owner     

Effect     

DNA change (cDNA)     

Exon     

Protein     
JAM2 NM_021219.3 21 Both (homozygous) g.27062184delT - - - Homozygous Pathogenic [Cen, 2029] JAM2_000001 Coppola Lab UCLA (EMR) +?/. c.140delT 3 p.(Leu48*)
JAM2 NM_021219.3 21 Both (homozygous) g.27012134A>G - - - Homozygous Pathogenic [Cen, 2029] JAM2_000002 Coppola Lab UCLA (EMR) +?/. c.1A>G 1 p.(Met1?)
JAM2 NM_021219.3 21 Unknown g.27071098G>C - - - Compound Heterozygous Likely Pathogenic [Cen, 2029] JAM2_000003 Coppola Lab UCLA (EMR) +?/. c.504G>C 5 p.(Trp168Cys)
JAM2 NM_021219.3 21 Unknown g.(27012201_27056194)_(27066221_27070988)del - - - Compound Heterozygous Pathogenic [Cen, 2029] JAM2_000004 Coppola Lab UCLA (EMR) +?/. c.(67+1_68-1)_(394+1_395-1)del 1i-4i p.(Tyr23_Val132delinsLeu)
JAM2 NM_021219.3 21 Unknown g.27074569C>T 0.000021380 rs781261918 - Homozygous Pathogenic [Schottlaender, 2020] JAM2_000005 Coppola Lab UCLA (EMR) +?/. c.685C>T 6 p.(Arg229*)
JAM2 NM_021219.3 21 Unknown g.27074569C>T 0.000021380 rs781261918 yes Homozygous Pathogenic [Schottlaender, 2020] JAM2_000005 Coppola Lab UCLA (EMR) +?/. c.685C>T 6 p.(Arg229*)
JAM2 NM_021219.3 21 Unknown g.27070988dupG 0.000012080 rs751103286 - Compound Heterozygous Pathogenic [Schottlaender, 2020] JAM2_000006 Coppola Lab UCLA (EMR) +?/. c.395-1dupG 4i p.?
JAM2 NM_021219.3 21 Unknown g.27066149G>A 0.000031840 rs1383641309 - Compound Heterozygous Likely Pathogenic [Schottlaender, 2020] JAM2_000007 Coppola Lab UCLA (EMR) +?/. c.323G>A 4 p.(Arg108His)
JAM2 NM_021219.3 21 Unknown g.27062221_27062224delCAGA - - - Homozygous Pathogenic [Schottlaender, 2020] JAM2_000008 Coppola Lab UCLA (EMR) +?/. c.177_180delCAGA 3 p.(Arg60*)
MYORG NM_020702.4 9 Both (homozygous) g.34371412delC - - - Homozygous Pathogenic [Ramos, 2019] MYORG_000001 Coppola Lab UCLA (EMR) +?/. c.1530delG 2 p.(Asn511Thrfs*243)
MYORG NM_020702.4 9 Both (homozygous) g.34372717C>T 0.000012230 rs760451348 yes Homozygous Pathogenic [Yao,2018] MYORG_000002 Coppola Lab UCLA (EMR) +?/. c.225G>A 2 p.(Trp75*)
MYORG NM_020702.4 9 Both (homozygous) g.34372247G>A 0.000008336 rs757434146 yes Homozygous Likely Pathogenic [Yao, 2018] MYORG_000003 Coppola Lab UCLA (EMR) +?/. c.695C>T 2 p.(Ser232Leu)
MYORG NM_020702.4 9 Both (homozygous) g.34371609G>A - - - Homozygous Pathogenic [Peng, 2019] MYORG_000004 Coppola Lab UCLA (EMR) +?/. c.1333C>T 2 p.(Gln445*)
MYORG NM_020702.4 9 Unknown g.34371709delG - - yes Homozygous Pathogenic [Arkadir, 2018] MYORG_000005 Coppola Lab UCLA (EMR) +?/. c.1233delC 2 p.(Phe411Leufs*23)
MYORG NM_020702.4 9 Both (homozygous) g.34371880_34371882delGTC 0.000012030 rs1180204613 yes Homozygous Likely Pathogenic [Arkadir, 2018] MYORG_000006 Coppola Lab UCLA (EMR) -?/. c.1060_1062delGAC 2 p.(Asp354del)
MYORG NM_020702.4 9 Both (homozygous) g.34370975A>G 0.000025000 rs370944350 yes Homozygous Likely Pathogenic [Forouhideh, 2019] MYORG_000007 Coppola Lab UCLA (EMR) +?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Both (homozygous) g.34372593insGCGGAAGGCCAG 0.000035270 rs775762093 - Homozygous Likely Pathogenic [Chen, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Both (homozygous) g.34371511G>T - - - Homozygous Pathogenic [Chen, 2019] MYORG_000009 Coppola Lab UCLA (EMR) +?/. c.1431C>A 2 p.(Tyr477*)
MYORG NM_020702.4 9 Both (homozygous) g.34372500_34372514del - - yes Homozygous Likely Pathogenic [Chen, 2019] MYORG_000010 Coppola Lab UCLA (EMR) +?/. c.428_442delTGCACTTCTTCATCC 2 p.(Leu143_Ile147del)
MYORG NM_020702.4 9 Unknown g.34372255C>A - - - Compound Heterozygous Likely Pathogenic [Chen, 2019] MYORG_000011 Coppola Lab UCLA (EMR) +?/. c.687G>T 2 p.(Trp229Cys)
MYORG NM_020702.4 9 Unknown g.34372593insGCGGAAGGCCAG 0.000035270 rs775762093 - Compound Heterozygous Likely Pathogenic [Chen, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371614C>T - - yes Compound Heterozygous Pathogenic [Yao,2018] MYORG_000012 Coppola Lab UCLA (EMR) +?/. c.1328G>A 2 p.(Trp443*)
MYORG NM_020702.4 9 Unknown g.34372839T>C 0.000020070 rs765483979 yes Compound Heterozygous Likely Pathogenic [Yao, 2018] MYORG_000013 Coppola Lab UCLA (EMR) +?/. c.103A>G 2 p.(Met35Val)
MYORG NM_020702.4 9 Unknown g.34372717C>T 0.000012230 rs760451348 yes Compound Heterozygous Pathogenic [Yao, 2018] MYORG_000002 Coppola Lab UCLA (EMR) +?/. c.225G>A 2 p.(Trp75*)
MYORG NM_020702.4 9 Unknown g.34371621G>C 0.000004381 rs749427106 yes Compound Heterozygous Likely Pathogenic [Yao, 2018] MYORG_000014 Coppola Lab UCLA (EMR) +?/. c.1321C>G 2 p.(Arg441Gly)
MYORG NM_020702.4 9 Unknown g.34372335G>A - - - Compound Heterozygous Pathogenic [Yao, 2018] MYORG_000015 Coppola Lab UCLA (EMR) +?/. c.607C>T 2 p.(Gln203*)
MYORG NM_020702.4 9 Unknown g.34372159_34372160delinsAA - - - Compound Heterozygous Likely Pathogenic [Yao, 2018] MYORG_000016 Coppola Lab UCLA (EMR) +?/. c.782_783delinsTT 2 p.(Arg261Leu)
MYORG NM_020702.4 9 Unknown g.34371845_34371850delTCGAAG - rs1398218251 - Compound Heterozygous Likely Pathogenic [Yao, 2018] MYORG_000017 Coppola Lab UCLA (EMR) +?/. c.1092_1097delCTTCGA 2 p.(Phe365_Asp366del)
MYORG NM_020702.4 9 Unknown g.34372593insGCGGAAGGCCAG 0.000035270 rs775762093 - Compound Heterozygous Likely Pathogenic [Yao, 2018] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371077A>G - rs1239594469 - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000018 Coppola Lab UCLA (EMR) +?/. c.1865T>C 2 p.(Leu622Pro)
MYORG NM_020702.4 9 Unknown g.34372604A>C - - - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000019 Coppola Lab UCLA (EMR) +?/. c.338T>G 2 p.(Leu113Arg)
MYORG NM_020702.4 9 Unknown g.34370975A>G 0.000025000 rs370944350 - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000007 Coppola Lab UCLA (EMR) +?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Unknown g.34371515G>T - rs769099047 - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000020 Coppola Lab UCLA (EMR) +?/. c.1427C>A 2 p.(Thr476Asn)
MYORG NM_020702.4 9 Unknown g.34371642C>G 0.000011450 rs916933188 - Homozygous Likely Pathogenic [Grangeon, 2019] MYORG_000021 Coppola Lab UCLA (EMR) +?/. c.1300G>C 2 p.(Asp434His)
MYORG NM_020702.4 9 Unknown g.34370963A>T - - - Homozygous Likely Pathogenic [Grangeon, 2019] MYORG_000022 Coppola Lab UCLA (EMR) +?/. c.1979T>A 2 p.(Leu660Gln)
MYORG NM_020702.4 9 Unknown g.34372195C>G 0.000004122 rs1356560096 - Homozygous Likely Pathogenic [Grangeon, 2019] MYORG_000023 Coppola Lab UCLA (EMR) +?/. c.747G>C 2 p.(Trp249Cys)
MYORG NM_020702.4 9 Unknown g.34371111G>A - rs536187898 - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000024 Coppola Lab UCLA (EMR) +?/. c.1831C>T 2 p.(Arg611Trp)
MYORG NM_020702.4 9 Unknown g.34372594_34372605dupGCGGAAGGCCAG 0.000035270 rs775762093 - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371402_34371404delAGG - - - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000025 Coppola Lab UCLA (EMR) +?/. c.1538_1540delCCT 2 p.(Ser513del)
MYORG NM_020702.4 9 Unknown g.34371824G>T - - - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000026 Coppola Lab UCLA (EMR) +?/. c.1118C>A 2 p.(Ala373Asp)
MYORG NM_020702.4 9 Unknown g.34372234_34372236dupGGC - - yes Homozygous Likely Pathogenic [Grangeon, 2019] MYORG_000027 Coppola Lab UCLA (EMR) +?/. c.706_708dupGCC 2 p.(Ala236dup)
MYORG NM_020702.4 9 Unknown g.34372594_34372605dupGCGGAAGGCCAG 0.000035270 rs775762093 - Compound Heterozygous Likely Pathogenic [Grangeon, 2019] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34371609G>A - - - Compound Heterozygous Pathogenic [Grangeon, 2019] MYORG_000004 Coppola Lab UCLA (EMR) +?/. c.1333C>T 2 p.(Gln445*)
MYORG NM_020702.4 9 Unknown g.34371864delA - - - Compound Heterozygous Pathogenic [Grangeon, 2019] MYORG_000028 Coppola Lab UCLA (EMR) +?/. c.1078delT 2 p.(Tyr360Metfs*74)
MYORG NM_020702.4 9 Unknown g.34371548dupC 0.000004298 - - Compound Heterozygous Pathogenic [Grangeon, 2019] MYORG_000029 Coppola Lab UCLA (EMR) +?/. c.1394dupG 2 p.(Glu466Argfs*27)
MYORG NM_020702.4 9 Unknown g.34372751C>T 0.000004036 rs756514041 yes Homozygous Likely Pathogenic [Grangeon, 2019] MYORG_000030 Coppola Lab UCLA (EMR) +?/. c.191G>A 2 p.(Gly64Glu)
MYORG NM_020702.4 9 Both (homozygous) g.34372087_34372088dupCA - - - Homozygous Pathogenic [Ferreira, 2019] MYORG_000031 Coppola Lab UCLA (EMR) ?/. c.854_855dupTG 2 p.(Gly286Trpfs*149)
MYORG NM_020702.4 9 Unknown g.34372593_34372594insGCGGAAGGCCAG 0.000035270 rs775762093 - Homozygous Pathogenic [Chen,2020] MYORG_000008 Coppola Lab UCLA (EMR) +?/. c.337_348dup 2 p.(Leu113_Arg116dup)
MYORG NM_020702.4 9 Unknown g.34372263G>C - - - Compound Heterozygous Likely Pathogenic [Chen,2020] MYORG_000032 Coppola Lab UCLA (EMR) ?/. c.679C>G 2 p.(Arg227Gly)
MYORG NM_020702.4 9 Unknown g.34371431C>G - - - Compound Heterozygous Likely Pathogenic [Chen,2020] MYORG_000033 Coppola Lab UCLA (EMR) ?/. c.1511G>C 2 p.(Arg504Pro)
MYORG NM_020702.4 9 Unknown g.34372160C>A - - - Compound Heterozygous Likely Pathogenic [Chen,2020] MYORG_000034 Coppola Lab UCLA (EMR) ?/. c.782G>T 2 p.(Arg261Leu)
MYORG NM_020702.4 9 Unknown g.34370975A>G 0.000025000 rs370944350 - Compound Heterozygous Likely Pathogenic [Chen,2020] MYORG_000007 Coppola Lab UCLA (EMR) ?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Unknown g.34370975A>G 0.000025000 rs370944350 - Homozygous Likely Pathogenic [Chen,2020] MYORG_000007 Coppola Lab UCLA (EMR) ?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Unknown g.34372049C>G 0.000008066 rs1383940545 - Homozygous Likely Pathogenic [Chen,2020] MYORG_000035 Coppola Lab UCLA (EMR) ?/. c.893G>C 2 p.(Arg298Pro)
MYORG NM_020702.4 9 Unknown g.34372751C>T 0.000004036 rs756514041 - Homozygous Likely Pathogenic [Chen,2020] MYORG_000030 Coppola Lab UCLA (EMR) ?/. c.191G>A 2 p.(Gly64Glu)
MYORG NM_020702.4 9 Unknown g.34371609G>A - - - Heterozygous Likely Pathogenic [Chen,2020] MYORG_000004 Coppola Lab UCLA (EMR) ?/. c.1333C>T 2 p.(Gln445*)
MYORG NM_020702.4 9 Unknown g.34371609G>A - - - Heterozygous Likely Pathogenic [Chen,2020] MYORG_000004 Coppola Lab UCLA (EMR) ?/. c.1333C>T 2 p.(Gln445*)
MYORG NM_020702.4 9 Unknown g.34372839T>C 0.000020070 rs765483979 - Heterozygous Uncertain significance [Chen,2020] MYORG_000013 Coppola Lab UCLA (EMR) ?/. c.103A>G 2 p.(Met35Val)
MYORG NM_020702.4 9 Unknown g.34371111G>A - rs536187898 - Heterozygous Uncertain significance [Chen,2020] MYORG_000024 Coppola Lab UCLA (EMR) ?/. c.1831C>T 2 p.(Arg611Trp)
MYORG NM_020702.4 9 Unknown g.34372049C>G 0.000008066 rs1383940545 - Heterozygous Uncertain significance [Chen,2020] MYORG_000035 Coppola Lab UCLA (EMR) ?/. c.893G>C 2 p.(Arg298Pro)
MYORG NM_020702.4 9 Unknown g.34371017G>C - - no Heterozygous Uncertain significance [Chen,2020] MYORG_000036 Coppola Lab UCLA (EMR) ?/. c.1925C>G 2 p.(Pro642Arg)
MYORG NM_020702.4 9 Unknown g.34371138_34371140delCCA - - - Heterozygous Likely Pathogenic [Chen,2020] MYORG_000037 Coppola Lab UCLA (EMR) ?/. c.1802_1804delTGG 2 p.(Val601del)
MYORG NM_020702.4 9 Unknown g.34371981A>G - - - Heterozygous Uncertain significance [Chen,2020] MYORG_000038 Coppola Lab UCLA (EMR) ?/. c.961T>C 2 p.(Trp321Arg)
MYORG NM_020702.4 9 Unknown g.34372509A>T - - - Heterozygous Uncertain significance [Chen,2020] MYORG_000039 Coppola Lab UCLA (EMR) ?/. c.433T>A 2 p.(Phe145Ile)
MYORG NM_020702.4 9 Unknown g.34372766C>T 0.000044280 rs778863651 - Homozygous Likely Pathogenic [Chelban, 2020] MYORG_000040 Coppola Lab UCLA (EMR) ?/. c.176G>A 2 p.(Gly59Asp)
MYORG NM_020702.4 9 Unknown g.34371455G>A - - yes Homozygous Likely Pathogenic [Chelban, 2020] MYORG_000041 Coppola Lab UCLA (EMR) ?/. c.1487C>T 2 p.(Pro496Leu)
MYORG NM_020702.4 9 Unknown g.34371308C>T 0.000061630 rs199770930 - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000042 Coppola Lab UCLA (EMR) ?/. c.1634G>A 2 p.(Gly545Asp)
MYORG NM_020702.4 9 Unknown g.34371344G>A 0.000021570 rs761392440 - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000043 Coppola Lab UCLA (EMR) ?/. c.1598C>T 2 p.(Ser533Leu)
MYORG NM_020702.4 9 Unknown g.34370854_34370855del - - - Compound Heterozygous Pathogenic [Chelban, 2020] MYORG_000044 Coppola Lab UCLA (EMR) +?/. c.2087_2088del 2 p.(Leu696Profs*10)
MYORG NM_020702.4 9 Unknown g.34372593A>G 0.000008937 rs755742995 - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000045 Coppola Lab UCLA (EMR) ?/. c.349T>C 2 p.(Ser117Pro)
MYORG NM_020702.4 9 Unknown g.34370904C>T - - - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000046 Coppola Lab UCLA (EMR) ?/. c.2038G>A 2 p.(Gly680Ser)
MYORG NM_020702.4 9 Unknown g.34371683G>C - - - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000047 Coppola Lab UCLA (EMR) ?/. c.1259C>G 2 p.(Pro420Arg)
MYORG NM_020702.4 9 Unknown g.34372617G>A 0.000004390 rs746104060 - Compound Heterozygous Pathogenic [Chelban, 2020] MYORG_000048 Coppola Lab UCLA (EMR) +?/. c.325C>T 2 p.(Gln109*)
MYORG NM_020702.4 9 Unknown g.34371110C>A 0.000020690 rs757944000 - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000049 Coppola Lab UCLA (EMR) ?/. c.1832G>T 2 p.(Arg611Leu)
MYORG NM_020702.4 9 Unknown g.34371665_34371672dupCACCAGCG 0.000004254 - - Compound Heterozygous Pathogenic [Chelban, 2020] MYORG_000050 Coppola Lab UCLA (EMR) +?/. c.1270_1277dupCGCTGGTG 2 p.(Trp426Cysfs*11)
MYORG NM_020702.4 9 Unknown g.34370975A>G 0.000025000 rs370944350 - Compound Heterozygous Likely Pathogenic [Chelban, 2020] MYORG_000007 Coppola Lab UCLA (EMR) ?/. c.1967T>C 2 p.(Ile656Thr)
MYORG NM_020702.4 9 Unknown g.34372148G>A 0.000004164 rs1249298879 - Homozygous Likely Pathogenic [Kume, 2020] MYORG_000051 Coppola Lab UCLA (EMR) ?/. c.794C>T 2 p.(Thr265Met)
MYORG NM_020702.4 9 Unknown g.34371111G>A - rs536187898 - Homozygous Likely Pathogenic [Saranza, 2020] MYORG_000024 Coppola Lab UCLA (EMR) ?/. c.1831C>T 2 p.(Arg611Trp)
PDGFB NM_002608.2 22 Unknown g.39639966C>T - rs398122399 yes - Likely Pathogenic [Keller, 2013] PDGFB_000001 Coppola Lab UCLA (EMR) ?/? c.3G>A 1 p.(Met1?)
PDGFB NM_002608.2 22 Unknown g.39627638G>A - rs397515633 yes - Pathogenic [Keller, 2013] PDGFB_000007 Coppola Lab UCLA (EMR) ?/? c.445C>T 4 p.(Arg149*)
PDGFB NM_002608.2 22 Unknown g.39639943A>C - - yes - Likely Pathogenic [Keller, 2013] PDGFB_000011 Coppola Lab UCLA (Andrea Legati) ?/? c.26T>G 1 p.(Leu9Arg)
PDGFB NM_002608.2 22 Unknown g.39627727A>G - rs397515632 yes - Likely Pathogenic [Keller, 2013] PDGFB_000012 Coppola Lab UCLA (EMR) ?/? c.356T>C 4 p.(Leu119Pro)
PDGFB NM_002608.2 22 Unknown g.39627650G>A - rs397515631 yes - Pathogenic [Keller, 2013] PDGFB_000013 Coppola Lab UCLA (EMR) ?/? c.433C>T 4 p.(Gln145*)
PDGFB NM_002608.2 22 Unknown g.39621728C>G - rs398122398 yes - Pathogenic [Keller, 2013] PDGFB_000014 Coppola Lab UCLA (EMR) ?/? c.726G>C 6 p.(*242Tyrext*89)
PDGFB NM_002608.2 22 Unknown g.39627638G>A - rs397515633 yes - Pathogenic [Hayashi, 2015] PDGFB_000007 Coppola Lab UCLA (Andrea Legati) ?/? c.445C>T 4 p.(Arg149*)
PDGFB NM_002608.2 22 Unknown g.39627644G>A - - ? - Pathogenic [Nicolas, 2014] PDGFB_000015 Coppola Lab UCLA (Andrea Legati) ?/? c.439C>T 4 p.(Gln147*)
PDGFB NM_002608.2 22 Unknown g.39622528_39629767del441 - - ? - Likely Pathogenic [Nicolas, 2014] PDGFB_000016 Coppola Lab UCLA (EMR) ./. c.161-238_602-676del441 3-5 p.Glu54Aladel147
PDGFB NM_002608.2 22 Unknown g.39631882G>C - - ? - Likely Pathogenic [Nicolas, 2015] PDGFB_000017 Coppola Lab UCLA (EMR) ./. c.64-3C>G 1i p.?
PDGFB NM_002608.2 22 Unknown g.39627800C>T - - ? - Likely Pathogenic [Nicolas,2015] PDGFB_000018 Coppola Lab UCLA (EMR) ./. c.283G>A 4 p.(Ala95Thr)
PDGFB NM_002608.2 22 Unknown g.39627755G>C - - ? - Likely Pathogenic [Nicolas,2015] PDGFB_000019 Coppola Lab UCLA (EMR) ./. c.328C>G 4 p.(Leu110Val)
PDGFB NM_002608.2 22 Unknown g.39627718G>A - - yes - Likely Pathogenic [Keogh, 2015] PDGFB_000020 Coppola Lab UCLA (EMR) ./. c.365C>T 4 p.(Pro122Leu)
PDGFB NM_002608.2 22 Unknown g.39639966C>G - - yes - Likely Pathogenic [Biancheri, 2016] PDGFB_000021 Coppola Lab UCLA (EMR) +?/. c.3G>C 1 p.(Met1?)
PDGFB NM_002608.2 22 Unknown g.39629470C>A - - yes - Pathogenic [Yao,2016] PDGFB_000022 Coppola Lab UCLA (EMR) ?/. c.220G>T 3 p.(Glu74*)
PDGFB NM_002608.2 22 Unknown g.39639943A>C - - yes - Uncertain significance [Paucar, 2016] PDGFB_000011 Coppola Lab UCLA (EMR) ./. c.26T>G 1 p.(Leu9Arg)
PDGFB NM_002608.2 22 Unknown g.39627689C>G - - - - Likely Pathogenic [Ramos, 2018] PDGFB_000023 Coppola Lab UCLA (EMR) ./. c.394G>C 4 p.(Gly132Arg)
PDGFB NM_002608.2 22 Unknown g.39627658C>T - - - - Uncertain significance [Ramos, 2018] PDGFB_000024 Coppola Lab UCLA (EMR) ./. c.425G>A 4 p.(Arg142His)
PDGFB NM_002608.2 22 Unknown g.39627638G>A - rs397515633 - - Pathogenic [Ramos, 2018] PDGFB_000007 Coppola Lab UCLA (EMR) ./. c.445C>T 4 p.(Arg149*)
PDGFB NM_002608.2 22 Unknown g.39627626C>T - - - - Pathogenic [Ramos, 2018] PDGFB_000025 Coppola Lab UCLA (EMR) ./. c.456+1G>A 4i p.?
PDGFB NM_002608.2 22 Unknown g.39621730A>G - - - - Pathogenic [Ramos, 2018] PDGFB_000026 Coppola Lab UCLA (EMR) ./. c.724T>C 6 p.(*242Glnext*89)
PDGFB NM_002608.2 22 Unknown g.39621728C>G - rs398122398 - - Pathogenic [Ramos, 2018] PDGFB_000014 Coppola Lab UCLA (EMR) ./. c.726G>C 6 p.(*242Tyrext*89)
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