Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.6390221_6390884delCA2740093595 ClinVar
11g.6390699_6390711delinsGCCTGGTGCTGGCCA1950145678SMPD1c.101_113delinsGCCTGGTGCTGGC (p.Gly34=)
c.-96+60_-96+72delinsGCCTGGTGCTGGC (n.-96+60_-96+72delinsGCCTGGTGCTGGC)
n.260_272delinsGCCTGGTGCTGGC
n.399_411delinsGCCTGGTGCTGGC
c.-861_-849delinsGCCTGGTGCTGGC (n.-861_-849delinsGCCTGGTGCTGGC)
n.286_298delinsGCCTGGTGCTGGC
n.226_238delinsGCCTGGTGCTGGC
11g.6390701_6390713delCA645591969SMPD1c.103_115del (p.Leu35TrpfsTer?)
c.-96+62_-96+74del (n.-96+62_-96+74del)
n.262_274del
n.401_413del
c.-859_-847del (n.-859_-847del)
n.288_300del
n.228_240del
 COSMIC COSMIC
11g.6390700_6390705delCA2574738544SMPD1c.102_107del (p.Leu35_Val36del)
c.-96+61_-96+66del (n.-96+61_-96+66del)
n.261_266del
n.400_405del
c.-860_-855del (n.-860_-855del)
n.287_292del
n.227_232del
11g.6390700_6390706delinsCCTGGTGCA1950145682SMPD1c.102_108delinsCCTGGTG (p.Gly34=)
c.-96+61_-96+67delinsCCTGGTG (n.-96+61_-96+67delinsCCTGGTG)
n.261_267delinsCCTGGTG
n.400_406delinsCCTGGTG
c.-860_-854delinsCCTGGTG (n.-860_-854delinsCCTGGTG)
n.287_293delinsCCTGGTG
n.227_233delinsCCTGGTG
11g.6390700_6390711delCA645591970SMPD1c.102_113del (p.Leu35_Ala38del)
c.-96+61_-96+72del (n.-96+61_-96+72del)
n.261_272del
n.400_411del
c.-860_-849del (n.-860_-849del)
n.287_298del
n.227_238del
 dbSNP COSMIC COSMIC
11g.6390700_6390712delinsCCTGGTGCTGGCGCA1950145683SMPD1c.102_114delinsCCTGGTGCTGGCG (p.Gly34=)
c.-96+61_-96+73delinsCCTGGTGCTGGCG (n.-96+61_-96+73delinsCCTGGTGCTGGCG)
n.261_273delinsCCTGGTGCTGGCG
n.400_412delinsCCTGGTGCTGGCG
c.-860_-848delinsCCTGGTGCTGGCG (n.-860_-848delinsCCTGGTGCTGGCG)
n.287_299delinsCCTGGTGCTGGCG
n.227_239delinsCCTGGTGCTGGCG
11g.6390700_6390718delinsCCTGGTGCTGGCGCTGGCGCA1950145681SMPD1c.102_120delinsCCTGGTGCTGGCGCTGGCG (p.Gly34=)
c.-96+61_-96+79delinsCCTGGTGCTGGCGCTGGCG (n.-96+61_-96+79delinsCCTGGTGCTGGCGCTGGCG)
n.261_279delinsCCTGGTGCTGGCGCTGGCG
n.400_418delinsCCTGGTGCTGGCGCTGGCG
c.-860_-842delinsCCTGGTGCTGGCGCTGGCG (n.-860_-842delinsCCTGGTGCTGGCGCTGGCG)
n.287_305delinsCCTGGTGCTGGCGCTGGCG
n.227_245delinsCCTGGTGCTGGCGCTGGCG
11g.6390700_6390724delinsCCTGGTGCTGGCGCTGGCGCTGGCGCA1950145684SMPD1c.102_126delinsCCTGGTGCTGGCGCTGGCGCTGGCG (p.Gly34=)
c.-96+61_-96+85delinsCCTGGTGCTGGCGCTGGCGCTGGCG (n.-96+61_-96+85delinsCCTGGTGCTGGCGCTGGCGCTGGCG)
n.261_285delinsCCTGGTGCTGGCGCTGGCGCTGGCG
n.400_424delinsCCTGGTGCTGGCGCTGGCGCTGGCG
c.-860_-836delinsCCTGGTGCTGGCGCTGGCGCTGGCG (n.-860_-836delinsCCTGGTGCTGGCGCTGGCGCTGGCG)
n.287_311delinsCCTGGTGCTGGCGCTGGCGCTGGCG
n.227_251delinsCCTGGTGCTGGCGCTGGCGCTGGCG
11g.6390701_6390704delinsCTGGCA1950145685SMPD1c.103_106delinsCTGG (p.Leu35=)
c.-96+62_-96+65delinsCTGG (n.-96+62_-96+65delinsCTGG)
n.262_265delinsCTGG
n.401_404delinsCTGG
c.-859_-856delinsCTGG (n.-859_-856delinsCTGG)
n.288_291delinsCTGG
n.228_231delinsCTGG
11g.6390704_6390705insCGCTGGCA10631123SMPD1c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)
c.-96+65_-96+66insCGCTGG (n.-96+65_-96+66insCGCTGG)
n.265_266insCGCTGG
n.404_405insCGCTGG
c.-856_-855insCGCTGG (n.-856_-855insCGCTGG)
n.291_292insCGCTGG
n.231_232insCGCTGG
 ClinVar dbSNP
11g.6390704_6390705insCGCTGGCGCTGGCA472909376SMPD1c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
c.-96+65_-96+66insCGCTGGCGCTGG (n.-96+65_-96+66insCGCTGGCGCTGG)
n.265_266insCGCTGGCGCTGG
n.404_405insCGCTGGCGCTGG
c.-856_-855insCGCTGGCGCTGG (n.-856_-855insCGCTGGCGCTGG)
n.291_292insCGCTGGCGCTGG
n.231_232insCGCTGGCGCTGG
 ClinVar dbSNP
11g.6390704_6390705insCGCTGGCGCTGGCGCTGGCA918811630SMPD1c.106_107insCGCTGGCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
c.-96+65_-96+66insCGCTGGCGCTGGCGCTGG (n.-96+65_-96+66insCGCTGGCGCTGGCGCTGG)
n.265_266insCGCTGGCGCTGGCGCTGG
n.404_405insCGCTGGCGCTGGCGCTGG
c.-856_-855insCGCTGGCGCTGGCGCTGG (n.-856_-855insCGCTGGCGCTGGCGCTGG)
n.291_292insCGCTGGCGCTGGCGCTGG
n.231_232insCGCTGGCGCTGGCGCTGG
 ClinVar dbSNP
11g.6390704_6390705insCGCTGGCGCTGGCGCTGGCGCTGGCA1950145687SMPD1c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu)
c.-96+65_-96+66insCGCTGGCGCTGGCGCTGGCGCTGG (n.-96+65_-96+66insCGCTGGCGCTGGCGCTGGCGCTGG)
n.265_266insCGCTGGCGCTGGCGCTGGCGCTGG
n.404_405insCGCTGGCGCTGGCGCTGGCGCTGG
c.-856_-855insCGCTGGCGCTGGCGCTGGCGCTGG (n.-856_-855insCGCTGGCGCTGGCGCTGGCGCTGG)
n.291_292insCGCTGGCGCTGGCGCTGGCGCTGG
n.231_232insCGCTGGCGCTGGCGCTGGCGCTGG
 dbSNP
11g.6390701_6390705delCA472909374SMPD1c.103_107del (p.Leu35AlafsTer15)
c.-96+62_-96+66del (n.-96+62_-96+66del)
n.262_266del
n.401_405del
c.-859_-855del (n.-859_-855del)
n.288_292del
n.228_232del
 ClinVar gnomAD v4
11g.6390705_6390710delCA5852475SMPD1c.107_112del (p.Val36_Leu37del)
c.-96+66_-96+71del (n.-96+66_-96+71del)
n.266_271del
n.405_410del
c.-855_-850del (n.-855_-850del)
n.292_297del
n.232_237del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.6390705_6390716dupCA918811632SMPD1c.107_118dup (p.Leu39_Ala40insValLeuAlaLeu)
c.-96+66_-96+77dup (n.-96+66_-96+77dup)
n.266_277dup
n.405_416dup
c.-855_-844dup (n.-855_-844dup)
n.292_303dup
n.232_243dup
 dbSNP gnomAD v3 gnomAD v4
11g.6390705_6390716delCA200324SMPD1c.107_118del (p.Val36_Leu39del)
c.-96+66_-96+77del (n.-96+66_-96+77del)
n.266_277del
n.405_416del
c.-855_-844del (n.-855_-844del)
n.292_303del
n.232_243del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
11g.6390705_6390722delCA200326SMPD1c.107_124del (p.Val36_Leu41del)
c.-96+66_-96+83del (n.-96+66_-96+83del)
n.266_283del
n.405_422del
c.-855_-838del (n.-855_-838del)
n.292_309del
n.232_249del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.6390705_6390728delCA5852476SMPD1c.107_130del (p.Val36_Leu43del)
c.-96+66_-96+89del (n.-96+66_-96+89del)
n.266_289del
n.405_428del
c.-855_-832del (n.-855_-832del)
n.292_315del
n.232_255del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.6390705_6390734dupCA5852477SMPD1c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
c.-96+66_-96+95dup (n.-96+66_-96+95dup)
n.266_295dup
n.405_434dup
c.-855_-826dup (n.-855_-826dup)
n.292_321dup
n.232_261dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.6390705_6390734delCA2612220993SMPD1c.107_136del (p.Val36_Leu45del)
c.-96+66_-96+95del (n.-96+66_-96+95del)
n.266_295del
n.405_434del
c.-855_-826del (n.-855_-826del)
n.292_321del
n.232_261del
 gnomAD v4
11g.6390704_6390706delCA5852479SMPD1c.106_108del (p.Val36del)
c.-96+65_-96+67del (n.-96+65_-96+67del)
n.265_267del
n.404_406del
c.-856_-854del (n.-856_-854del)
n.291_293del
n.231_233del
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.6390702_6390712delinsTGGTGCTGGCGCA1950145689SMPD1c.104_114delinsTGGTGCTGGCG (p.Leu35=)
c.-96+63_-96+73delinsTGGTGCTGGCG (n.-96+63_-96+73delinsTGGTGCTGGCG)
n.263_273delinsTGGTGCTGGCG
n.402_412delinsTGGTGCTGGCG
c.-858_-848delinsTGGTGCTGGCG (n.-858_-848delinsTGGTGCTGGCG)
n.289_299delinsTGGTGCTGGCG
n.229_239delinsTGGTGCTGGCG
11g.6390704dupCA915947958SMPD1c.106dup (p.Val36GlyfsTer16)
c.-96+65dup (n.-96+65dup)
n.265dup
n.404dup
c.-856dup (n.-856dup)
n.291dup
n.231dup
 ClinVar dbSNP
11g.6390704delCA472909380SMPD1c.106del (p.Val36CysfsTer?)
c.-96+65del (n.-96+65del)
n.265del
n.404del
c.-856del (n.-856del)
n.291del
n.231del
11g.6390703_6390705delinsGGTCA1950145691SMPD1c.105_107delinsGGT (p.Leu35=)
c.-96+64_-96+66delinsGGT (n.-96+64_-96+66delinsGGT)
n.264_266delinsGGT
n.403_405delinsGGT
c.-857_-855delinsGGT (n.-857_-855delinsGGT)
n.290_292delinsGGT
n.230_232delinsGGT
11g.6390703_6390712delCA5852480SMPD1c.105_114del (p.Val36TrpfsTer?)
c.-96+64_-96+73del (n.-96+64_-96+73del)
n.264_273del
n.403_412del
c.-857_-848del (n.-857_-848del)
n.290_299del
n.230_239del
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.6390703_6390713delinsGGTGCTGGCGCCA1950145690SMPD1c.105_115delinsGGTGCTGGCGC (p.Leu35=)
c.-96+64_-96+74delinsGGTGCTGGCGC (n.-96+64_-96+74delinsGGTGCTGGCGC)
n.264_274delinsGGTGCTGGCGC
n.403_413delinsGGTGCTGGCGC
c.-857_-847delinsGGTGCTGGCGC (n.-857_-847delinsGGTGCTGGCGC)
n.290_300delinsGGTGCTGGCGC
n.230_240delinsGGTGCTGGCGC
11g.6390704G>ACA379367154SMPD1c.106G>A (p.Val36Met)
c.-96+65G>A (n.-96+65G>A)
n.265G>A
n.404G>A
c.-856G>A (n.-856G>A)
n.291G>A
n.231G>A
 dbSNP gnomAD v2 gnomAD v4
11g.6390704G>CCA5852483SMPD1c.106G>C (p.Val36Leu)
c.-96+65G>C (n.-96+65G>C)
n.265G>C
n.404G>C
c.-856G>C (n.-856G>C)
n.291G>C
n.231G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.6390704G=CA1950145694SMPD1c.106G= (p.Val36=)
c.-96+65G= (n.-96+65G=)
n.265G=
n.404G=
c.-856G= (n.-856G=)
n.291G=
n.231G=
11g.6390704G>TCA217298983SMPD1c.106G>T (p.Val36Leu)
c.-96+65G>T (n.-96+65G>T)
n.265G>T
n.404G>T
c.-856G>T (n.-856G>T)
n.291G>T
n.231G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.6390704_6390705delinsGTCA1950145692SMPD1c.106_107delinsGT (p.Val36=)
c.-96+65_-96+66delinsGT (n.-96+65_-96+66delinsGT)
n.265_266delinsGT
n.404_405delinsGT
c.-856_-855delinsGT (n.-856_-855delinsGT)
n.291_292delinsGT
n.231_232delinsGT
11g.6390704_6390705delinsCGCTGGCCA2580615628SMPD1c.106_107delinsCGCTGGC (p.Val36ArgfsTer?)
c.-96+65_-96+66delinsCGCTGGC (n.-96+65_-96+66delinsCGCTGGC)
n.265_266delinsCGCTGGC
n.404_405delinsCGCTGGC
c.-856_-855delinsCGCTGGC (n.-856_-855delinsCGCTGGC)
n.291_292delinsCGCTGGC
n.231_232delinsCGCTGGC
 ClinVar
11g.6390705_6390706delCA918811636SMPD1c.107_108del (p.Val36AlafsTer15)
c.-96+66_-96+67del (n.-96+66_-96+67del)
n.266_267del
n.405_406del
c.-855_-854del (n.-855_-854del)
n.292_293del
n.232_233del
 dbSNP
11g.6390704_6390713delCA5852481SMPD1c.106_115del (p.Val36TrpfsTer?)
c.-96+65_-96+74del (n.-96+65_-96+74del)
n.265_274del
n.404_413del
c.-856_-847del (n.-856_-847del)
n.291_300del
n.231_240del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.6390704_6390714delinsGTGCTGGCGCTCA1950145693SMPD1c.106_116delinsGTGCTGGCGCT (p.Val36=)
c.-96+65_-96+75delinsGTGCTGGCGCT (n.-96+65_-96+75delinsGTGCTGGCGCT)
n.265_275delinsGTGCTGGCGCT
n.404_414delinsGTGCTGGCGCT
c.-856_-846delinsGTGCTGGCGCT (n.-856_-846delinsGTGCTGGCGCT)
n.291_301delinsGTGCTGGCGCT
n.231_241delinsGTGCTGGCGCT
11g.6390704_6390705insCGCCA5852482SMPD1c.106_107insCGC (p.Val36delinsAlaLeu)
c.-96+65_-96+66insCGC (n.-96+65_-96+66insCGC)
n.265_266insCGC
n.404_405insCGC
c.-856_-855insCGC (n.-856_-855insCGC)
n.291_292insCGC
n.231_232insCGC
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.6390704_6390705insCGCTGGCGCCA2790302065SMPD1c.106_107insCGCTGGCGC (p.Val36delinsAlaLeuAlaLeu)
c.-96+65_-96+66insCGCTGGCGC (n.-96+65_-96+66insCGCTGGCGC)
n.265_266insCGCTGGCGC
n.404_405insCGCTGGCGC
c.-856_-855insCGCTGGCGC (n.-856_-855insCGCTGGCGC)
n.291_292insCGCTGGCGC
n.231_232insCGCTGGCGC
11g.6390705delCA2612220996SMPD1c.107del (p.Val36GlyfsTer?)
c.-96+66del (n.-96+66del)
n.266del
n.405del
c.-855del (n.-855del)
n.292del
n.232del
 gnomAD v4
11g.6390705T>ACA379367158SMPD1c.107T>A (p.Val36Glu)
c.-96+66T>A (n.-96+66T>A)
n.266T>A
n.405T>A
c.-855T>A (n.-855T>A)
n.292T>A
n.232T>A
11g.6390705T>CCA146857SMPD1c.107T>C (p.Val36Ala)
c.-96+66T>C (n.-96+66T>C)
n.266T>C
n.405T>C
c.-855T>C (n.-855T>C)
n.292T>C
n.232T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.6390705T>GCA379367161SMPD1c.107T>G (p.Val36Gly)
c.-96+66T>G (n.-96+66T>G)
n.266T>G
n.405T>G
c.-855T>G (n.-855T>G)
n.292T>G
n.232T>G
11g.6390705T=CA1950145695SMPD1c.107T= (p.Val36=)
c.-96+66T= (n.-96+66T=)
n.266T=
n.405T=
c.-855T= (n.-855T=)
n.292T=
n.232T=
11g.6390705delinsCGCTGGCGCTGGCCA1139661802SMPD1c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla)
c.-96+66delinsCGCTGGCGCTGGC (n.-96+66delinsCGCTGGCGCTGGC)
n.266delinsCGCTGGCGCTGGC
n.405delinsCGCTGGCGCTGGC
c.-855delinsCGCTGGCGCTGGC (n.-855delinsCGCTGGCGCTGGC)
n.292delinsCGCTGGCGCTGGC
n.232delinsCGCTGGCGCTGGC
 ClinVar dbSNP
11g.6390705_6390706delinsCTCA2499221113SMPD1c.107_108delinsCT (p.Val36Ala)
c.-96+66_-96+67delinsCT (n.-96+66_-96+67delinsCT)
n.266_267delinsCT
n.405_406delinsCT
c.-855_-854delinsCT (n.-855_-854delinsCT)
n.292_293delinsCT
n.232_233delinsCT
 ClinVar dbSNP
11g.6390705_6390711delinsTGCTGGCCA2497029791SMPD1c.107_113delinsTGCTGGC (p.Val36=)
c.-96+66_-96+72delinsTGCTGGC (n.-96+66_-96+72delinsTGCTGGC)
n.266_272delinsTGCTGGC
n.405_411delinsTGCTGGC
c.-855_-849delinsTGCTGGC (n.-855_-849delinsTGCTGGC)
n.292_298delinsTGCTGGC
n.232_238delinsTGCTGGC
11g.6390705_6390714delinsCGCCA915947959SMPD1c.107_116delinsCGC (p.Val36AlafsTer?)
c.-96+66_-96+75delinsCGC (n.-96+66_-96+75delinsCGC)
n.266_275delinsCGC
n.405_414delinsCGC
c.-855_-846delinsCGC (n.-855_-846delinsCGC)
n.292_301delinsCGC
n.232_241delinsCGC
 ClinVar dbSNP
11g.6390705_6390729delinsTGCTGGCGCTGGCGCTGGCGCTGGCCA1950145696SMPD1c.107_131delinsTGCTGGCGCTGGCGCTGGCGCTGGC (p.Val36=)
c.-96+66_-96+90delinsTGCTGGCGCTGGCGCTGGCGCTGGC (n.-96+66_-96+90delinsTGCTGGCGCTGGCGCTGGCGCTGGC)
n.266_290delinsTGCTGGCGCTGGCGCTGGCGCTGGC
n.405_429delinsTGCTGGCGCTGGCGCTGGCGCTGGC
c.-855_-831delinsTGCTGGCGCTGGCGCTGGCGCTGGC (n.-855_-831delinsTGCTGGCGCTGGCGCTGGCGCTGGC)
n.292_316delinsTGCTGGCGCTGGCGCTGGCGCTGGC
n.232_256delinsTGCTGGCGCTGGCGCTGGCGCTGGC

Number of alleles fetched