Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.50529200A=CA1706649080DDC,FIGNL1c.570+8T= (n.570+8T=)
c.336+8T= (n.336+8T=)
c.213-920T=
c.435+8660T= (n.435+8660T=)
c.456+8T= (n.456+8T=)
n.369+8T=
c.-11+13318T= (n.-11+13318T=)
c.219+8T= (n.219+8T=)
c.513+8T= (n.513+8T=)
7g.50529200A>CCA574296902DDC,FIGNL1c.570+8T>G (n.570+8T>G)
c.336+8T>G (n.336+8T>G)
c.213-920T>G
c.435+8660T>G (n.435+8660T>G)
c.456+8T>G (n.456+8T>G)
n.369+8T>G
c.-11+13318T>G (n.-11+13318T>G)
c.219+8T>G (n.219+8T>G)
c.513+8T>G (n.513+8T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529200A>TCA2682812978DDC,FIGNL1c.570+8T>A (n.570+8T>A)
c.336+8T>A (n.336+8T>A)
c.213-920T>A
c.435+8660T>A (n.435+8660T>A)
c.456+8T>A (n.456+8T>A)
n.369+8T>A
c.-11+13318T>A (n.-11+13318T>A)
c.219+8T>A (n.219+8T>A)
c.513+8T>A (n.513+8T>A)
 gnomAD v4
7g.50529200_50529204delinsACACTCA1706649081DDC,FIGNL1c.570+4_570+8delinsAGTGT (n.570+4_570+8delinsAGTGT)
c.336+4_336+8delinsAGTGT (n.336+4_336+8delinsAGTGT)
c.213-924_213-920delinsAGTGT
c.435+8656_435+8660delinsAGTGT (n.435+8656_435+8660delinsAGTGT)
c.456+4_456+8delinsAGTGT (n.456+4_456+8delinsAGTGT)
n.369+4_369+8delinsAGTGT
c.-11+13314_-11+13318delinsAGTGT (n.-11+13314_-11+13318delinsAGTGT)
c.219+4_219+8delinsAGTGT (n.219+4_219+8delinsAGTGT)
c.513+4_513+8delinsAGTGT (n.513+4_513+8delinsAGTGT)
7g.50529204_50529207delCA839343703DDC,FIGNL1c.570+4_570+7del (n.570+4_570+7del)
c.336+4_336+7del (n.336+4_336+7del)
c.213-924_213-921del
c.435+8656_435+8659del (n.435+8656_435+8659del)
c.456+4_456+7del (n.456+4_456+7del)
n.369+4_369+7del
c.-11+13314_-11+13317del (n.-11+13314_-11+13317del)
c.219+4_219+7del (n.219+4_219+7del)
c.513+4_513+7del (n.513+4_513+7del)
 dbSNP gnomAD v3 gnomAD v4
7g.50529202A=CA1706649084DDC,FIGNL1c.570+6T= (n.570+6T=)
c.336+6T= (n.336+6T=)
c.213-922T=
c.435+8658T= (n.435+8658T=)
c.456+6T= (n.456+6T=)
n.369+6T=
c.-11+13316T= (n.-11+13316T=)
c.219+6T= (n.219+6T=)
c.513+6T= (n.513+6T=)
7g.50529202A>TCA574296903DDC,FIGNL1c.570+6T>A (n.570+6T>A)
c.336+6T>A (n.336+6T>A)
c.213-922T>A
c.435+8658T>A (n.435+8658T>A)
c.456+6T>A (n.456+6T>A)
n.369+6T>A
c.-11+13316T>A (n.-11+13316T>A)
c.219+6T>A (n.219+6T>A)
c.513+6T>A (n.513+6T>A)
 dbSNP gnomAD v2 gnomAD v4
7g.50529203C=CA1706649100DDC,FIGNL1c.570+5G= (n.570+5G=)
c.336+5G= (n.336+5G=)
c.213-923G=
c.435+8657G= (n.435+8657G=)
c.456+5G= (n.456+5G=)
n.369+5G=
c.-11+13315G= (n.-11+13315G=)
c.219+5G= (n.219+5G=)
c.513+5G= (n.513+5G=)
7g.50529203C>GCA2580077228DDC,FIGNL1c.570+5G>C (n.570+5G>C)
c.336+5G>C (n.336+5G>C)
c.213-923G>C
c.435+8657G>C (n.435+8657G>C)
c.456+5G>C (n.456+5G>C)
n.369+5G>C
c.-11+13315G>C (n.-11+13315G>C)
c.219+5G>C (n.219+5G>C)
c.513+5G>C (n.513+5G>C)
 ClinVar gnomAD v4
7g.50529203C>TCA1706649101DDC,FIGNL1c.570+5G>A (n.570+5G>A)
c.336+5G>A (n.336+5G>A)
c.213-923G>A
c.435+8657G>A (n.435+8657G>A)
c.456+5G>A (n.456+5G>A)
n.369+5G>A
c.-11+13315G>A (n.-11+13315G>A)
c.219+5G>A (n.219+5G>A)
c.513+5G>A (n.513+5G>A)
 dbSNP gnomAD v4
7g.50529206A>CCA367526595DDC,FIGNL1c.570+2T>G (n.570+2T>G)
c.336+2T>G (n.336+2T>G)
c.213-926T>G
c.435+8654T>G (n.435+8654T>G)
c.456+2T>G (n.456+2T>G)
n.369+2T>G
c.-11+13312T>G (n.-11+13312T>G)
c.219+2T>G (n.219+2T>G)
c.513+2T>G (n.513+2T>G)
7g.50529206A>GCA367526594DDC,FIGNL1c.570+2T>C (n.570+2T>C)
c.336+2T>C (n.336+2T>C)
c.213-926T>C
c.435+8654T>C (n.435+8654T>C)
c.456+2T>C (n.456+2T>C)
n.369+2T>C
c.-11+13312T>C (n.-11+13312T>C)
c.219+2T>C (n.219+2T>C)
c.513+2T>C (n.513+2T>C)
7g.50529206A>TCA367526593DDC,FIGNL1c.570+2T>A (n.570+2T>A)
c.336+2T>A (n.336+2T>A)
c.213-926T>A
c.435+8654T>A (n.435+8654T>A)
c.456+2T>A (n.456+2T>A)
n.369+2T>A
c.-11+13312T>A (n.-11+13312T>A)
c.219+2T>A (n.219+2T>A)
c.513+2T>A (n.513+2T>A)
7g.50529207C>ACA367526596DDC,FIGNL1c.570+1G>T (n.570+1G>T)
c.336+1G>T (n.336+1G>T)
c.213-927G>T
c.435+8653G>T (n.435+8653G>T)
c.456+1G>T (n.456+1G>T)
n.369+1G>T
c.-11+13311G>T (n.-11+13311G>T)
c.219+1G>T (n.219+1G>T)
c.513+1G>T (n.513+1G>T)
 gnomAD v4
7g.50529207C>GCA367526597DDC,FIGNL1c.570+1G>C (n.570+1G>C)
c.336+1G>C (n.336+1G>C)
c.213-927G>C
c.435+8653G>C (n.435+8653G>C)
c.456+1G>C (n.456+1G>C)
n.369+1G>C
c.-11+13311G>C (n.-11+13311G>C)
c.219+1G>C (n.219+1G>C)
c.513+1G>C (n.513+1G>C)
7g.50529207C>TCA367526598DDC,FIGNL1c.570+1G>A (n.570+1G>A)
c.336+1G>A (n.336+1G>A)
c.213-927G>A
c.435+8653G>A (n.435+8653G>A)
c.456+1G>A (n.456+1G>A)
n.369+1G>A
c.-11+13311G>A (n.-11+13311G>A)
c.219+1G>A (n.219+1G>A)
c.513+1G>A (n.513+1G>A)
7g.50529208C>ACA367526599DDC,FIGNL1c.570G>T (p.Gln190His)
c.336G>T (p.Gln112His)
c.213-928G>T
c.435+8652G>T (n.435+8652G>T)
c.456G>T (p.Gln152His)
n.369G>T
c.-11+13310G>T (n.-11+13310G>T)
c.219G>T (p.Gln73His)
c.513G>T (p.Gln171His)
 COSMIC COSMIC
7g.50529208C>GCA367526600DDC,FIGNL1c.570G>C (p.Gln190His)
c.336G>C (p.Gln112His)
c.213-928G>C
c.435+8652G>C (n.435+8652G>C)
c.456G>C (p.Gln152His)
n.369G>C
c.-11+13310G>C (n.-11+13310G>C)
c.219G>C (p.Gln73His)
c.513G>C (p.Gln171His)
7g.50529208C>TCA454937485DDC,FIGNL1c.570G>A (p.Gln190=)
c.336G>A (p.Gln112=)
c.213-928G>A
c.435+8652G>A (n.435+8652G>A)
c.456G>A (p.Gln152=)
n.369G>A
c.-11+13310G>A (n.-11+13310G>A)
c.219G>A (p.Gln73=)
c.513G>A (p.Gln171=)
7g.50529209T>ACA4262337DDC,FIGNL1c.569A>T (p.Gln190Leu)
c.335A>T (p.Gln112Leu)
c.213-929A>T
c.435+8651A>T (n.435+8651A>T)
c.455A>T (p.Gln152Leu)
n.368A>T
c.-11+13309A>T (n.-11+13309A>T)
c.218A>T (p.Gln73Leu)
c.512A>T (p.Gln171Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529209T>CCA367526601DDC,FIGNL1c.569A>G (p.Gln190Arg)
c.335A>G (p.Gln112Arg)
c.213-929A>G
c.435+8651A>G (n.435+8651A>G)
c.455A>G (p.Gln152Arg)
n.368A>G
c.-11+13309A>G (n.-11+13309A>G)
c.218A>G (p.Gln73Arg)
c.512A>G (p.Gln171Arg)
 gnomAD v4
7g.50529209T>GCA367526602DDC,FIGNL1c.569A>C (p.Gln190Pro)
c.335A>C (p.Gln112Pro)
c.213-929A>C
c.435+8651A>C (n.435+8651A>C)
c.455A>C (p.Gln152Pro)
n.368A>C
c.-11+13309A>C (n.-11+13309A>C)
c.218A>C (p.Gln73Pro)
c.512A>C (p.Gln171Pro)
7g.50529209T=CA1706649105DDC,FIGNL1c.569A= (p.Gln190=)
c.335A= (p.Gln112=)
c.213-929A=
c.435+8651A= (n.435+8651A=)
c.455A= (p.Gln152=)
n.368A=
c.-11+13309A= (n.-11+13309A=)
c.218A= (p.Gln73=)
c.512A= (p.Gln171=)
7g.50529209_50529210insATCGCA2026154274DDC,FIGNL1c.568_569insCGAT (p.Gln190ProfsTer?)
c.334_335insCGAT (p.Gln112ProfsTer?)
c.213-930_213-929insCGAT
c.435+8650_435+8651insCGAT (n.435+8650_435+8651insCGAT)
c.454_455insCGAT (p.Gln152ProfsTer?)
n.367_368insCGAT
c.-11+13308_-11+13309insCGAT (n.-11+13308_-11+13309insCGAT)
c.568_569insCGAT (p.Gln190ProfsTer16)
c.217_218insCGAT (p.Gln73ProfsTer?)
c.511_512insCGAT (p.Gln171ProfsTer?)
7g.50529210G>ACA367526603DDC,FIGNL1c.568C>T (p.Gln190Ter)
c.334C>T (p.Gln112Ter)
c.213-930C>T
c.435+8650C>T (n.435+8650C>T)
c.454C>T (p.Gln152Ter)
n.367C>T
c.-11+13308C>T (n.-11+13308C>T)
c.217C>T (p.Gln73Ter)
c.511C>T (p.Gln171Ter)
 ClinVar dbSNP
7g.50529210G>CCA367526604DDC,FIGNL1c.568C>G (p.Gln190Glu)
c.334C>G (p.Gln112Glu)
c.213-930C>G
c.435+8650C>G (n.435+8650C>G)
c.454C>G (p.Gln152Glu)
n.367C>G
c.-11+13308C>G (n.-11+13308C>G)
c.217C>G (p.Gln73Glu)
c.511C>G (p.Gln171Glu)
7g.50529210G>TCA367526605DDC,FIGNL1c.568C>A (p.Gln190Lys)
c.334C>A (p.Gln112Lys)
c.213-930C>A
c.435+8650C>A (n.435+8650C>A)
c.454C>A (p.Gln152Lys)
n.367C>A
c.-11+13308C>A (n.-11+13308C>A)
c.217C>A (p.Gln73Lys)
c.511C>A (p.Gln171Lys)
7g.50529213_50529217dupCA1706649109DDC,FIGNL1c.564_568dup (p.Gln190ProfsTer13)
c.330_334dup (p.Gln112ProfsTer13)
c.213-934_213-930dup
c.435+8646_435+8650dup (n.435+8646_435+8650dup)
c.450_454dup (p.Gln152ProfsTer13)
n.363_367dup
c.-11+13304_-11+13308dup (n.-11+13304_-11+13308dup)
c.564_568dup (p.Gln190ProfsTer20)
c.213_217dup (p.Gln73ProfsTer13)
c.507_511dup (p.Gln171ProfsTer13)
 ClinVar dbSNP
7g.50529211A>CCA367526606DDC,FIGNL1c.567T>G (p.Asp189Glu)
c.333T>G (p.Asp111Glu)
c.213-931T>G
c.435+8649T>G (n.435+8649T>G)
c.453T>G (p.Asp151Glu)
n.366T>G
c.-11+13307T>G (n.-11+13307T>G)
c.216T>G (p.Asp72Glu)
c.510T>G (p.Asp170Glu)
7g.50529211A>GCA454937486DDC,FIGNL1c.567T>C (p.Asp189=)
c.333T>C (p.Asp111=)
c.213-931T>C
c.435+8649T>C (n.435+8649T>C)
c.453T>C (p.Asp151=)
n.366T>C
c.-11+13307T>C (n.-11+13307T>C)
c.216T>C (p.Asp72=)
c.510T>C (p.Asp170=)
7g.50529211A>TCA367526607DDC,FIGNL1c.567T>A (p.Asp189Glu)
c.333T>A (p.Asp111Glu)
c.213-931T>A
c.435+8649T>A (n.435+8649T>A)
c.453T>A (p.Asp151Glu)
n.366T>A
c.-11+13307T>A (n.-11+13307T>A)
c.216T>A (p.Asp72Glu)
c.510T>A (p.Asp170Glu)
7g.50529212T>ACA367526609DDC,FIGNL1c.566A>T (p.Asp189Val)
c.332A>T (p.Asp111Val)
c.213-932A>T
c.435+8648A>T (n.435+8648A>T)
c.452A>T (p.Asp151Val)
n.365A>T
c.-11+13306A>T (n.-11+13306A>T)
c.215A>T (p.Asp72Val)
c.509A>T (p.Asp170Val)
 gnomAD v4
7g.50529212T>CCA367526610DDC,FIGNL1c.566A>G (p.Asp189Gly)
c.332A>G (p.Asp111Gly)
c.213-932A>G
c.435+8648A>G (n.435+8648A>G)
c.452A>G (p.Asp151Gly)
n.365A>G
c.-11+13306A>G (n.-11+13306A>G)
c.215A>G (p.Asp72Gly)
c.509A>G (p.Asp170Gly)
7g.50529212T>GCA367526608DDC,FIGNL1c.566A>C (p.Asp189Ala)
c.332A>C (p.Asp111Ala)
c.213-932A>C
c.435+8648A>C (n.435+8648A>C)
c.452A>C (p.Asp151Ala)
n.365A>C
c.-11+13306A>C (n.-11+13306A>C)
c.215A>C (p.Asp72Ala)
c.509A>C (p.Asp170Ala)
7g.50529213C>ACA367526612DDC,FIGNL1c.565G>T (p.Asp189Tyr)
c.331G>T (p.Asp111Tyr)
c.213-933G>T
c.435+8647G>T (n.435+8647G>T)
c.451G>T (p.Asp151Tyr)
n.364G>T
c.-11+13305G>T (n.-11+13305G>T)
c.214G>T (p.Asp72Tyr)
c.508G>T (p.Asp170Tyr)
7g.50529213C=CA1706649117DDC,FIGNL1c.565G= (p.Asp189=)
c.331G= (p.Asp111=)
c.213-933G=
c.435+8647G= (n.435+8647G=)
c.451G= (p.Asp151=)
n.364G=
c.-11+13305G= (n.-11+13305G=)
c.214G= (p.Asp72=)
c.508G= (p.Asp170=)
7g.50529213C>GCA4262338DDC,FIGNL1c.565G>C (p.Asp189His)
c.331G>C (p.Asp111His)
c.213-933G>C
c.435+8647G>C (n.435+8647G>C)
c.451G>C (p.Asp151His)
n.364G>C
c.-11+13305G>C (n.-11+13305G>C)
c.214G>C (p.Asp72His)
c.508G>C (p.Asp170His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529213C>TCA367526611DDC,FIGNL1c.565G>A (p.Asp189Asn)
c.331G>A (p.Asp111Asn)
c.213-933G>A
c.435+8647G>A (n.435+8647G>A)
c.451G>A (p.Asp151Asn)
n.364G>A
c.-11+13305G>A (n.-11+13305G>A)
c.214G>A (p.Asp72Asn)
c.508G>A (p.Asp170Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.50529214G>ACA4262339DDC,FIGNL1c.564C>T (p.Ser188=)
c.330C>T (p.Ser110=)
c.213-934C>T
c.435+8646C>T (n.435+8646C>T)
c.450C>T (p.Ser150=)
n.363C>T
c.-11+13304C>T (n.-11+13304C>T)
c.213C>T (p.Ser71=)
c.507C>T (p.Ser169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529214G>CCA454937488DDC,FIGNL1c.564C>G (p.Ser188=)
c.330C>G (p.Ser110=)
c.213-934C>G
c.435+8646C>G (n.435+8646C>G)
c.450C>G (p.Ser150=)
n.363C>G
c.-11+13304C>G (n.-11+13304C>G)
c.213C>G (p.Ser71=)
c.507C>G (p.Ser169=)
7g.50529214G=CA1706649126DDC,FIGNL1c.564C= (p.Ser188=)
c.330C= (p.Ser110=)
c.213-934C=
c.435+8646C= (n.435+8646C=)
c.450C= (p.Ser150=)
n.363C=
c.-11+13304C= (n.-11+13304C=)
c.213C= (p.Ser71=)
c.507C= (p.Ser169=)
7g.50529214G>TCA454937487DDC,FIGNL1c.564C>A (p.Ser188=)
c.330C>A (p.Ser110=)
c.213-934C>A
c.435+8646C>A (n.435+8646C>A)
c.450C>A (p.Ser150=)
n.363C>A
c.-11+13304C>A (n.-11+13304C>A)
c.213C>A (p.Ser71=)
c.507C>A (p.Ser169=)
7g.50529215G>ACA367526613DDC,FIGNL1c.563C>T (p.Ser188Phe)
c.329C>T (p.Ser110Phe)
c.213-935C>T
c.435+8645C>T (n.435+8645C>T)
c.449C>T (p.Ser150Phe)
n.362C>T
c.-11+13303C>T (n.-11+13303C>T)
c.212C>T (p.Ser71Phe)
c.506C>T (p.Ser169Phe)
7g.50529215G>CCA367526614DDC,FIGNL1c.563C>G (p.Ser188Cys)
c.329C>G (p.Ser110Cys)
c.213-935C>G
c.435+8645C>G (n.435+8645C>G)
c.449C>G (p.Ser150Cys)
n.362C>G
c.-11+13303C>G (n.-11+13303C>G)
c.212C>G (p.Ser71Cys)
c.506C>G (p.Ser169Cys)
7g.50529215G=CA1706649130DDC,FIGNL1c.563C= (p.Ser188=)
c.329C= (p.Ser110=)
c.213-935C=
c.435+8645C= (n.435+8645C=)
c.449C= (p.Ser150=)
n.362C=
c.-11+13303C= (n.-11+13303C=)
c.212C= (p.Ser71=)
c.506C= (p.Ser169=)
7g.50529215G>TCA367526615DDC,FIGNL1c.563C>A (p.Ser188Tyr)
c.329C>A (p.Ser110Tyr)
c.213-935C>A
c.435+8645C>A (n.435+8645C>A)
c.449C>A (p.Ser150Tyr)
n.362C>A
c.-11+13303C>A (n.-11+13303C>A)
c.212C>A (p.Ser71Tyr)
c.506C>A (p.Ser169Tyr)
 dbSNP
7g.50529216A>CCA367526616DDC,FIGNL1c.562T>G (p.Ser188Ala)
c.328T>G (p.Ser110Ala)
c.213-936T>G
c.435+8644T>G (n.435+8644T>G)
c.448T>G (p.Ser150Ala)
n.361T>G
c.-11+13302T>G (n.-11+13302T>G)
c.211T>G (p.Ser71Ala)
c.505T>G (p.Ser169Ala)
7g.50529216A>GCA367526617DDC,FIGNL1c.562T>C (p.Ser188Pro)
c.328T>C (p.Ser110Pro)
c.213-936T>C
c.435+8644T>C (n.435+8644T>C)
c.448T>C (p.Ser150Pro)
n.361T>C
c.-11+13302T>C (n.-11+13302T>C)
c.211T>C (p.Ser71Pro)
c.505T>C (p.Ser169Pro)
7g.50529216A>TCA367526618DDC,FIGNL1c.562T>A (p.Ser188Thr)
c.328T>A (p.Ser110Thr)
c.213-936T>A
c.435+8644T>A (n.435+8644T>A)
c.448T>A (p.Ser150Thr)
n.361T>A
c.-11+13302T>A (n.-11+13302T>A)
c.211T>A (p.Ser71Thr)
c.505T>A (p.Ser169Thr)
7g.50529217T>ACA454937489DDC,FIGNL1c.561A>T (p.Ser187=)
c.327A>T (p.Ser109=)
c.213-937A>T
c.435+8643A>T (n.435+8643A>T)
c.447A>T (p.Ser149=)
n.360A>T
c.-11+13301A>T (n.-11+13301A>T)
c.210A>T (p.Ser70=)
c.504A>T (p.Ser168=)

Number of alleles fetched