All variants affecting transcripts

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

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
ARSB NM_000046.3 5 Both (homozygous) g.78280837C>T - ARSB_000001 Admin ./+ 1 c.235G>A r.(?) p.(Gly79Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin +/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78251263G>C - ARSB_000003 Admin +/+ - c.753C>G r.(?) p.(Tyr251*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280797G>T - ARSB_000005 Admin +/+ - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic
ARSB NM_000046.3 5 Parent #2 g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181587A>G - ARSB_000006 Admin +/+ - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78251306G>T - ARSB_000007 Admin ./+ - c.710C>A r.(?) p.(Ala237Asp) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181645C>T - ARSB_000008 Admin ./+ - c.904G>A r.(?) p.(Gly302Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280760C>G - ARSB_000009 Admin ./+? - c.312G>C r.(?) p.(Gln104His) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78076221T>C - ARSB_000010 Admin ./. - c.1601A>G r.(?) p.(*534Trpext*50) VUS
ARSB NM_000046.3 5 Both (homozygous) g.78251263G>C - ARSB_000003 Admin +/+ - c.753C>G r.(?) p.(Tyr251*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin +/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280791G>T - ARSB_000011 Admin ./. - c.281C>A r.(?) p.(Ser94*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280797G>T - ARSB_000005 Admin ./. - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78260397G>C - ARSB_000012 Admin ./. - c.532C>G r.(?) p.(His178Asp) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78260397G>C - ARSB_000012 Admin ./. - c.532C>G r.(?) p.(His178Asp) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78251263G>C - ARSB_000003 Admin ./. - c.753C>G r.(?) p.(Tyr251*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181587A>G - ARSB_000006 Admin +/+ - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78251306G>T - ARSB_000007 Admin ./. - c.710C>A r.(?) p.(Ala237Asp) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin +/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181564del - ARSB_000013 Admin +/+ - c.985del r.(?) p.(Val329Trpfs*9) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181405A>G - ARSB_000014 Admin ./. - c.1142+2T>C r.spl? p.? pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181587A>G - ARSB_000006 Admin ./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Parent #1 g.78181587A>G - ARSB_000006 Admin ./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Parent #2 g.78264868_78264901del - ARSB_000015 Admin +/+ - c.427_460del r.(?) p.(Val143Asnfs*30) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Parent #1 g.78280951_78280959delCCCCGGCGC - ARSB_000016 Admin ./. - c.113_121delGCGCCGGGG r.(?) p.(Gly38_Gly40del) likely benign
ARSB NM_000046.3 5 Both (homozygous) g.78181567C>G - ARSB_000017 Admin ./. - c.982G>C r.(?) p.(Gly328Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin +/+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280798T>G - ARSB_000018 Admin ./+ - c.274A>C r.(?) p.(Thr92Pro) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./+ - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264850G>A - ARSB_000019 Admin ./. - c.478C>T r.(?) p.(Arg160*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181587A>G - ARSB_000006 Admin ./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181645C>T - ARSB_000008 Admin ./. - c.904G>A r.(?) p.(Gly302Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181567C>G - ARSB_000017 Admin ./. - c.982G>C r.(?) p.(Gly328Arg) likely pathogenic
ARSB NM_000046.3 5 Parent #1 g.78280882C>G - ARSB_000020 Admin ./. - c.190G>C r.(?) p.(Gly64Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78076483A>G - ARSB_000021 Admin ./. - c.1339T>C r.(?) p.(Cys447Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264849C>T - ARSB_000022 Admin ./. - c.479G>A r.(?) p.(Arg160Gln) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78281041G>A - ARSB_000023 Admin ./. - c.31C>T r.(?) p.(Arg11*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280797G>T - ARSB_000005 Admin ./. - c.275C>A r.(?) p.(Thr92Lys) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78251291T>C - ARSB_000024 Admin ./. - c.725A>G r.(?) p.(His242Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78260358G>A - ARSB_000025 Admin ./. - c.571C>T r.(?) p.(Arg191*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181587A>G - ARSB_000006 Admin ./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181587A>G - ARSB_000006 Admin ./. - c.962T>C r.(?) p.(Leu321Pro) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78281041G>A - ARSB_000023 Admin ./. - c.31C>T r.(?) p.(Arg11*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280837C>T - ARSB_000001 Admin ./. - c.235G>A r.(?) p.(Gly79Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78135214T>C - ARSB_000026 Admin ./. - c.1178A>G r.(?) p.(His393Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181570G>A - ARSB_000027 Admin ./. - c.979C>T r.(?) p.(Arg327*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78181615A>G - ARSB_000028 Admin ./. - c.934T>C r.(?) p.(Trp312Arg) likely pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78264898C>T - ARSB_000002 Admin ./. - c.430G>A r.(?) p.(Gly144Arg) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78251117C>T - ARSB_000029 Admin ./. - c.898+1G>A r.spl? p.? pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280791G>T - ARSB_000011 Admin ./. - c.281C>A r.(?) p.(Ser94*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280791G>T - ARSB_000011 Admin ./. - c.281C>A r.(?) p.(Ser94*) pathogenic
ARSB NM_000046.3 5 Both (homozygous) g.78280791G>T - ARSB_000011 Admin ./. - c.281C>A r.(?) p.(Ser94*) pathogenic
CTSA NM_000308.2 20 Parent #1 g.44523720G>A - CTSA_000001 Admin ./. - c.1090G>A r.(?) p.(Val364Met) likely pathogenic
CTSA NM_000308.2 20 Parent #2 g.44526731G>A - CTSA_000002 Admin ./. - c.1396G>A r.(?) p.(Ala466Thr) VUS
CTSA NM_001167594.1 20 Parent #1 g.44523720G>A - CTSA_000001 Admin ./. - c.1039G>A r.(?) p.(Val347Met) likely pathogenic
CTSA NM_001167594.1 20 Parent #2 g.44526731G>A - CTSA_000002 Admin ./. - c.1345G>A r.(?) p.(Ala449Thr) VUS
GALNS NM_000512.4 16 Both (homozygous) g.88901653T>C - GALNS_000001 Admin +/+ - c.866A>G r.(?) p.(Asn289Ser) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88901576_88904180del - GALNS_000002 Admin ./+ - c.423-7_898+45del r.(?) p.(His142Trpfs*15) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88908305C>T - GALNS_000003 Admin ./+ - c.319G>A r.(?) p.(Ala107Thr) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88898492A>C - GALNS_000004 Admin ./+ - c.916T>G r.(?) p.(Phe306Val) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88904054T>C - GALNS_000005 Admin ./+ - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88923202del - GALNS_000006 Admin ./. - c.84del r.(?) p.(Gln29Serfs*100) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88889082del - GALNS_000007 Admin ./+ - c.1279del r.(?) p.(Val427Serfs*14) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88904154G>A - GALNS_000008 Admin +/+ - c.442C>T r.(?) p.(Gln148*) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88898467A>G - GALNS_000009 Admin ./. - c.941T>C r.(?) p.(Phe314Ser) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88909210C>T - GALNS_000010 Admin ./+ - c.148G>A r.(?) p.(Gly50Arg) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88902640C>T - GALNS_000011 Admin ./. - c.602G>A r.(?) p.(Gly201Glu) likely pathogenic
GALNS NM_000512.4 16 Parent #1 g.88908311T>C - GALNS_000012 Admin ./+ - c.313A>G r.(?) p.(Arg105Gly) likely pathogenic
GALNS NM_000512.4 16 Parent #2 g.88901651C>T - GALNS_000013 Admin ./+ - c.868G>A r.(?) p.(Gly290Ser) pathogenic
GALNS NM_000512.4 16 Parent #1 g.88901659G>A - GALNS_000014 Admin ./+ - c.860C>T r.(?) p.(Ser287Leu) pathogenic
GALNS NM_000512.4 16 Parent #2 g.88889102G>C - GALNS_000015 Admin ./. - c.1259C>G r.(?) p.(Pro420Arg) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88880897A>G - GALNS_000016 Admin ./. - c.1519T>C r.(?) p.(Cys507Arg) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88898474T>C - GALNS_000017 Admin ./+ - c.934A>G r.(?) p.(Thr312Ala) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88904054T>C - GALNS_000005 Admin ./+ - c.542A>G r.(?) p.(Tyr181Cys) pathogenic
GALNS NM_000512.4 16 Parent #1 g.88902244A>G - GALNS_000018 Admin +/+ - c.647T>C r.(?) p.(Phe216Ser) pathogenic
GALNS NM_000512.4 16 Parent #2 g.88907401A>T - GALNS_000019 Admin ./. - c.421T>A r.(?) p.(Trp141Arg) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88902169G>T - GALNS_000020 Admin ./. - c.722C>A r.(?) p.(Ala241Asp) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88880848T>C - GALNS_000021 Admin ./. - c.1568A>G r.(?) p.(*523Trpext*92) VUS
GALNS NM_000512.4 16 Both (homozygous) g.88891260C>T - GALNS_000022 Admin ./. - c.1157G>A r.(?) p.(Arg386His) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88902211del - GALNS_000023 Admin ./. - c.680del r.(?) p.(Phe227Serfs*92) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88898461C>T - GALNS_000024 Admin ./. - c.947G>A r.(?) p.(Gly316Glu) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88889102G>C - GALNS_000015 Admin ./. - c.1259C>G r.(?) p.(Pro420Arg) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88923257C>T - GALNS_000025 Admin +/+ - c.29G>A r.(?) p.(Trp10*) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88923257C>T - GALNS_000025 Admin +/+ - c.29G>A r.(?) p.(Trp10*) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88907476C>T - GALNS_000026 Admin ./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88908305C>T - GALNS_000003 Admin ./. - c.319G>A r.(?) p.(Ala107Thr) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88907401A>T - GALNS_000019 Admin +/+ - c.421T>A r.(?) p.(Trp141Arg) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88898443G>A - GALNS_000027 Admin ./+ - c.965C>T r.(?) p.(Ala322Val) likely pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88904031_88904172del - GALNS_000028 Admin ./. - c.424_565del r.(?) p.(His142Aspfs*10) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88901659G>A - GALNS_000014 Admin +/+ - c.860C>T r.(?) p.(Ser287Leu) pathogenic
GALNS NM_000512.4 16 Both (homozygous) g.88907400_88909237del - GALNS_000029 Admin +/+ - c.121_422del r.(?) p.(Met41Alafs*16) pathogenic
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